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Genetic Epilepsy v0.556 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Genetic Epilepsy v0.555 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.554 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.17 TUBA1A Elena Savva reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30517687, 20466733; Phenotypes: Lissencephaly 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.43 SOX5 Elena Savva reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31578471; Phenotypes: Lamb-Shaffer syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hydrops fetalis v0.108 LZTR1 Elena Savva reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2, {Schwannomatosis-2, susceptibility to}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Marked gene: CAD as ready
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1790 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1789 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 25678555; 28007989; 30914295
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457
Review for gene: CAD was set to GREEN
gene: CAD was marked as current diagnostic
Added comment: Four unrelated families (two with same variant and Roma background, likely founder).
Sources: Expert list
Mendeliome v0.1048 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Mendeliome v0.1048 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Mendeliome v0.1048 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Marked gene: CACNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1788 CACNG2 Zornitza Stark Mode of inheritance for gene: CACNG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1787 CACNG2 Zornitza Stark Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256
Mendeliome v0.1047 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Mendeliome v0.1046 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Mendeliome v0.1046 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Mendeliome v0.1045 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1786 CACNG2 Zornitza Stark Publications for gene: CACNG2 were set to
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Classified gene: CACNG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1785 CACNG2 Zornitza Stark Gene: cacng2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1784 CACNG2 Zornitza Stark reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Marked gene: GNAS as ready
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Calcium and Phosphate disorders v0.18 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.17 GNAS Zornitza Stark Classified gene: GNAS as Green List (high evidence)
Calcium and Phosphate disorders v0.17 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.16 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, MIM# 103580
Review for gene: GNAS was set to GREEN
Added comment: Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.5 Zornitza Stark removed gene:STX16 from the panel
Calcium and Phosphate disorders v0.15 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Calcium and Phosphate disorders v0.15 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Marked gene: STX16 as ready
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Classified gene: STX16 as Green List (high evidence)
Calcium and Phosphate disorders v0.14 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.13 STX16 Zornitza Stark Tag SV/CNV tag was added to gene: STX16.
Calcium and Phosphate disorders v0.13 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STX16 were set to 14561710; 15579741; 27338644; 24438374
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233
Review for gene: STX16 was set to GREEN
Added comment: Note multiple cases reported of recurrent 3-4kb deletion.
Sources: Expert list
Mendeliome v0.1045 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Mendeliome v0.1045 PPM1D Zornitza Stark Gene: ppm1d has been classified as Green List (High Evidence).
Mendeliome v0.1045 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome, MIM #617450
Mendeliome v0.1044 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Mendeliome v0.1043 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1784 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome (MIM #617450)
Mendeliome v0.1042 PPM1D Zornitza Stark reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome, MIM #617450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1783 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Intellectual disability syndromic and non-syndromic v0.1782 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1042 EGFR Zornitza Stark Marked gene: EGFR as ready
Mendeliome v0.1042 EGFR Zornitza Stark Gene: egfr has been classified as Red List (Low Evidence).
Mendeliome v0.1042 EGFR Zornitza Stark Phenotypes for gene: EGFR were changed from to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069
Mendeliome v0.1041 EGFR Zornitza Stark Publications for gene: EGFR were set to
Mendeliome v0.1040 EGFR Zornitza Stark Mode of inheritance for gene: EGFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1039 EGFR Zornitza Stark Classified gene: EGFR as Red List (low evidence)
Mendeliome v0.1039 EGFR Zornitza Stark Gene: egfr has been classified as Red List (Low Evidence).
Mendeliome v0.1038 EGFR Zornitza Stark reviewed gene: EGFR: Rating: RED; Mode of pathogenicity: None; Publications: 24691054; Phenotypes: Inflammatory skin and bowel disease, neonatal, 2, OMIM # 616069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1038 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Mendeliome v0.1038 CLCNKA Zornitza Stark Gene: clcnka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1038 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Mendeliome v0.1037 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic; OMIM #613090
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1036 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Mendeliome v0.1035 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Mendeliome v0.1034 CLCNKA Zornitza Stark Classified gene: CLCNKA as Amber List (moderate evidence)
Mendeliome v0.1034 CLCNKA Zornitza Stark Gene: clcnka has been classified as Amber List (Moderate Evidence).
Calcium and Phosphate disorders v0.12 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.11 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Calcium and Phosphate disorders v0.10 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Mendeliome v0.1033 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Calcium and Phosphate disorders v0.9 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Mendeliome v0.1032 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1031 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Mendeliome v0.1031 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1030 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Calcium and Phosphate disorders v0.8 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Calcium and Phosphate disorders v0.8 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.7 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.5 SLC9A3R1 Zornitza Stark Mode of inheritance for gene: SLC9A3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypercalcaemia v0.4 SLC9A3R1 Zornitza Stark Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Hypercalcaemia v0.3 SLC9A3R1 Zornitza Stark Publications for gene: SLC9A3R1 were set to
Hypercalcaemia v0.2 SLC9A3R1 Zornitza Stark Classified gene: SLC9A3R1 as Red List (low evidence)
Hypercalcaemia v0.2 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.1 SLC9A3R1 Zornitza Stark reviewed gene: SLC9A3R1: Rating: RED; Mode of pathogenicity: None; Publications: 18784102; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Marked gene: PDE3A as ready
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Publications for gene: PDE3A were set to 25961942
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Publications for gene: PDE3A were set to
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.2 PDE3A Zornitza Stark reviewed gene: PDE3A: Rating: ; Mode of pathogenicity: None; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, MIM# 112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1030 SLC52A1 Kristin Rigbye commented on gene: SLC52A1
Motor Neurone Disease v0.2 SLC52A1 Kristin Rigbye commented on gene: SLC52A1
Mendeliome v0.1030 PTCH2 Kristin Rigbye commented on gene: PTCH2
Macrocephaly_Megalencephaly v0.12 PTCH2 Kristin Rigbye commented on gene: PTCH2
Mendeliome v0.1030 EGF Zornitza Stark Marked gene: EGF as ready
Mendeliome v0.1030 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v0.1030 EGF Zornitza Stark Mode of inheritance for gene: EGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1029 EGF Zornitza Stark Phenotypes for gene: EGF were changed from to Hypomagnesemia 4, renal, MIM#611718
Mendeliome v0.1028 EGF Zornitza Stark Publications for gene: EGF were set to
Mendeliome v0.1027 EGF Zornitza Stark Classified gene: EGF as Red List (low evidence)
Mendeliome v0.1027 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Mendeliome v0.1026 EGF Zornitza Stark reviewed gene: EGF: Rating: RED; Mode of pathogenicity: None; Publications: 17671655; Phenotypes: Hypomagnesemia 4, renal, MIM#611718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1026 CLCNKA Zornitza Stark reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM #613090; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Classified gene: CLCNKA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1781 CLCNKA Zornitza Stark Gene: clcnka has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Added comment: Two families reported, and note digenic inheritance for Bartter postulated. PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C). PubMed: 18310267- Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.

ID has been described for Bartter, but since gene-disease association for Bartter itself is not well established, demote to Red.; Changed rating: RED
Hypertension and Aldosterone disorders v0.2 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperaldosteronism, familial, type II 605635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1780 PPM1D Ain Roesley reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Myasthenia v0.0 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: 19251977; Phenotypes: Pierson syndrome, MIM# 609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Marked gene: CACNA2D2 as ready
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Classified gene: CACNA2D2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1780 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1779 CACNA2D2 Zornitza Stark gene: CACNA2D2 was added
gene: CACNA2D2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay, MIM#618501
Review for gene: CACNA2D2 was set to GREEN
Added comment: Multiple affected individuals reported; DD/ID is variable but present in most.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1778 CA5A Zornitza Stark Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Classified gene: CA5A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1777 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 CA5A Zornitza Stark reviewed gene: CA5A: Rating: RED; Mode of pathogenicity: None; Publications: 26913920; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1776 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1775 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 26854863; 27008867
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.
Sources: Expert list
Mendeliome v0.1026 FST Zornitza Stark Marked gene: FST as ready
Mendeliome v0.1026 FST Zornitza Stark Gene: fst has been classified as Red List (Low Evidence).
Mendeliome v0.1026 MYRF Zornitza Stark Marked gene: MYRF as ready
Mendeliome v0.1026 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.1026 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Mendeliome v0.1026 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Marked gene: MYRF as ready
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Mendeliome v0.1025 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
gene: MYRF was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Classified gene: MYRF as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.48 MYRF Zornitza Stark Gene: myrf has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.47 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia
Review for gene: MYRF was set to GREEN
Added comment: Multiple families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1774 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Intellectual disability syndromic and non-syndromic v0.1773 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Intellectual disability syndromic and non-syndromic v0.1772 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30097616, 27094867, 26477546, 24997988; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BSND Zornitza Stark edited their review of gene: BSND: Added comment: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1771 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1771 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Classified gene: BMPER as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1770 BMPER Zornitza Stark Gene: bmper has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1769 BMPER Zornitza Stark edited their review of gene: BMPER: Added comment: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1769 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Centronuclear myopathy 2, MIM# 255200 to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1768 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from to Centronuclear myopathy 2, MIM# 255200
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1767 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1766 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1765 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1764 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Mode of pathogenicity for gene: ATP6V1A was set to Other
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Both mono-allelic and bi-allelic variants associated with ID, evidence for both LoF and GoF for the mono-allelic variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1763 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290 to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1762 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Intellectual disability syndromic and non-syndromic v0.1761 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1760 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.308 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to 23543054; 29551497
Deafness_IsolatedAndComplex v0.307 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to 23543054
Deafness_IsolatedAndComplex v0.306 SLITRK6 Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29551497; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.306 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, MIM# 257920 to 3MC syndrome 1, MIM# 257920
Deafness_IsolatedAndComplex v0.305 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from to 3MC syndrome 1, MIM# 257920
Deafness_IsolatedAndComplex v0.305 MASP1 Zornitza Stark Mode of inheritance for gene: MASP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Marked gene: P2RX2 as ready
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.304 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to
Deafness_IsolatedAndComplex v0.303 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Deafness_IsolatedAndComplex v0.303 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.303 P2RX2 Zornitza Stark Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224
Deafness_IsolatedAndComplex v0.302 P2RX2 Zornitza Stark Mode of pathogenicity for gene: P2RX2 was changed from to Other
Deafness_IsolatedAndComplex v0.302 P2RX2 Zornitza Stark Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.301 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM# 615560
Deafness_IsolatedAndComplex v0.300 PAX1 Zornitza Stark Publications for gene: PAX1 were set to
Deafness_IsolatedAndComplex v0.299 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Deafness_IsolatedAndComplex v0.299 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.299 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Deafness_IsolatedAndComplex v0.299 PAX2 Zornitza Stark Gene: pax2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.299 PAX1 Zornitza Stark Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.298 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330
Deafness_IsolatedAndComplex v0.298 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Deafness_IsolatedAndComplex v0.297 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.296 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Deafness_IsolatedAndComplex v0.295 PAX2 Zornitza Stark Classified gene: PAX2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.295 PAX2 Zornitza Stark Gene: pax2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.294 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM#610896
Deafness_IsolatedAndComplex v0.294 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.293 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.293 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.293 SLC17A8 Zornitza Stark Marked gene: SLC17A8 as ready
Deafness_IsolatedAndComplex v0.293 SLC17A8 Zornitza Stark Gene: slc17a8 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.293 SLITRK6 Zornitza Stark Phenotypes for gene: SLITRK6 were changed from to deafness and myopia, MIM#221200
Deafness_IsolatedAndComplex v0.292 SLC17A8 Zornitza Stark Publications for gene: SLC17A8 were set to
Deafness_IsolatedAndComplex v0.292 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to
Deafness_IsolatedAndComplex v0.292 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.291 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.290 SLC17A8 Zornitza Stark Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM#605583
Deafness_IsolatedAndComplex v0.289 SLC17A8 Zornitza Stark Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Gene: traf7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.288 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.287 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900 to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Deafness_IsolatedAndComplex v0.286 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Anophthalmia_Microphthalmia_Coloboma v0.46 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.46 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.286 SOX2 Zornitza Stark Publications for gene: SOX2 were set to 30262714; 16932809; 16145681
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.45 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.285 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Deafness_IsolatedAndComplex v0.284 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.283 SOX2 Zornitza Stark Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Deafness_IsolatedAndComplex v0.282 SOX2 Zornitza Stark Classified gene: SOX2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.282 SOX2 Zornitza Stark Gene: sox2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Classified gene: TRAF7 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Gene: traf7 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.281 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.280 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from to Leber congenital amaurosis with early-onset deafness
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to 29198720
Deafness_IsolatedAndComplex v0.279 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in > 3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in > 3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v0.43 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in >unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.278 TUBB4B Zornitza Stark Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1760 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1759 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
gene: FBXW11 was marked as current diagnostic
Added comment: Reported in >3 unrelated individuals
Functional studies in Zebrafish
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1758 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Classified gene: MAB21L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1757 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1024 FBXW11 Alison Yeung Marked gene: FBXW11 as ready
Mendeliome v0.1024 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Mendeliome v0.1024 FBXW11 Alison Yeung Classified gene: FBXW11 as Green List (high evidence)
Mendeliome v0.1024 FBXW11 Alison Yeung Gene: fbxw11 has been classified as Green List (High Evidence).
Mendeliome v0.1023 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Mendeliome v0.1023 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1023 FBXW11 Alison Yeung gene: FBXW11 was added
gene: FBXW11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to PMID: 31402090
Phenotypes for gene: FBXW11 were set to Intellectual disability; developmental eye anomalies; digital anomalies
Review for gene: FBXW11 was set to GREEN
Added comment: Reported in >3 unrelated individuals
Functional studies in zebrafish
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Zornitza Stark Marked gene: MAB21L1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Zornitza Stark Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1022 ANAPC1 Alison Yeung Mode of inheritance for gene ANAPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.13 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.13 ANAPC1 Alison Yeung Marked gene: ANAPC1 as ready
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.13 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.12 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 reported unrelated families
Sources: Literature
Mendeliome v0.1021 ANAPC1 Alison Yeung Marked gene: ANAPC1 as ready
Mendeliome v0.1021 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Mendeliome v0.1021 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Mendeliome v0.1021 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Mendeliome v0.1020 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 unrelated families reported
Sources: Literature
Mendeliome v0.1019 RINT1 Alison Yeung Marked gene: RINT1 as ready
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1019 RINT1 Alison Yeung Classified gene: RINT1 as Green List (high evidence)
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1018 RINT1 Alison Yeung gene: RINT1 was added
gene: RINT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to PMID: 31204009
Phenotypes for gene: RINT1 were set to Recurrent acute liver failure
Review for gene: RINT1 was set to GREEN
gene: RINT1 was marked as current diagnostic
Added comment: three unrelated individuals reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1756 MADD Sue White reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097; Phenotypes: intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.42 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1756 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.41 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Marked gene: ASMT as ready
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.11 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.10 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.1017 MAB21L1 Sue White Classified gene: MAB21L1 as Green List (high evidence)
Mendeliome v0.1017 MAB21L1 Sue White Gene: mab21l1 has been classified as Green List (High Evidence).
Mendeliome v0.1016 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome #MIM 618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1755 ASMT Zornitza Stark Publications for gene: ASMT were set to 21251267
Mendeliome v0.1015 ASMT Zornitza Stark Marked gene: ASMT as ready
Mendeliome v0.1015 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Mendeliome v0.1015 ASMT Zornitza Stark Publications for gene: ASMT were set to
Intellectual disability syndromic and non-syndromic v0.1754 ASMT Zornitza Stark Publications for gene: ASMT were set to
Mendeliome v0.1015 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Mendeliome v0.1015 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Mendeliome v0.1014 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Classified gene: ASMT as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1753 ASMT Zornitza Stark Gene: asmt has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1752 ASMT Zornitza Stark reviewed gene: ASMT: Rating: RED; Mode of pathogenicity: None; Publications: 21251267; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1752 MAB21L1 Sue White gene: MAB21L1 was added
gene: MAB21L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479
Penetrance for gene: MAB21L1 were set to Complete
Review for gene: MAB21L1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from MENTAL RETARDATION X-LINKED TYPE 46 to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Marked gene: ARHGEF6 as ready
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1014 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1751 ARHGEF6 Zornitza Stark Phenotypes for gene: ARHGEF6 were changed from to MENTAL RETARDATION X-LINKED TYPE 46
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to 11017088
Intellectual disability syndromic and non-syndromic v0.1750 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Marked gene: AR as ready
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1749 AR Zornitza Stark Phenotypes for gene: AR were changed from to Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1749 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1013 ARHGEF6 Zornitza Stark Publications for gene: ARHGEF6 were set to
Mendeliome v0.1012 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Mendeliome v0.1011 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.1010 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1748 ARHGEF6 Zornitza Stark Mode of inheritance for gene: ARHGEF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Classified gene: ARHGEF6 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1747 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1746 ARHGEF6 Zornitza Stark reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: 11017088; Phenotypes: MENTAL RETARDATION X-LINKED TYPE 46; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Classified gene: AR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1746 AR Zornitza Stark Gene: ar has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 AR Zornitza Stark reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lymphoedema v0.0 ZNHIT3 Sue White gene: ZNHIT3 was added
gene: ZNHIT3 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Other
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565
Lymphoedema v0.0 TTR Sue White gene: TTR was added
gene: TTR was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31118583; 30120737; 31131842; 31111153; 30878017
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related 105210; Carpal tunnel syndrome, familial 115430; Dystransthyretinemic hyperthyroxinemia 145680
Lymphoedema v0.0 MPI Sue White gene: MPI was added
gene: MPI was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Lymphoedema v0.0 MET Sue White gene: MET was added
gene: MET was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: MET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MET were set to 18564920
Lymphoedema v0.0 HGF Sue White gene: HGF was added
gene: HGF was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: HGF was set to Unknown
Publications for gene: HGF were set to 18564920
Lymphoedema v0.0 CDC42 Sue White gene: CDC42 was added
gene: CDC42 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CDC42 was set to Unknown
Publications for gene: CDC42 were set to 26708094
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome 616737
Lymphoedema v0.0 CCDC88A Sue White gene: CCDC88A was added
gene: CCDC88A was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88A were set to 26917597
Phenotypes for gene: CCDC88A were set to ?PEHO syndrome-like, 617507
Lymphoedema v0.0 AQP1 Sue White gene: AQP1 was added
gene: AQP1 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: AQP1 was set to Unknown
Publications for gene: AQP1 were set to 11463012
Phenotypes for gene: AQP1 were set to [Blood group, Colton] 110450; Aquaporin-1 deficiency
Lymphoedema v0.0 ALX3 Sue White gene: ALX3 was added
gene: ALX3 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 15127764
Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760
Lymphoedema v0.0 ALG8 Sue White gene: ALG8 was added
gene: ALG8 was added to Lymphoedema_syndromic. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 12480927; 15235028
Lymphoedema v0.0 VEGFC Sue White gene: VEGFC was added
gene: VEGFC was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VEGFC were set to 30071673; 24744435; 23410910; 14634646
Phenotypes for gene: VEGFC were set to Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Lymphoedema v0.0 TSC2 Sue White gene: TSC2 was added
gene: TSC2 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, somatic 606690; ?Focal cortical dysplasia, type II, somatic 607341; Tuberous sclerosis-2 613254
Lymphoedema v0.0 TSC1 Sue White gene: TSC1 was added
gene: TSC1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1 191100; Lymphangioleiomyomatosis 606690; Focal cortical dysplasia, type II, somatic 607341
Lymphoedema v0.0 SPRED1 Sue White gene: SPRED1 was added
gene: SPRED1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPRED1 were set to 19366998; 17704776; 19443465; 21548021; 21649642
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Lymphoedema v0.0 SOX18 Sue White gene: SOX18 was added
gene: SOX18 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 26148450; 12740761
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Lymphoedema v0.0 SOS2 Sue White gene: SOS2 was added
gene: SOS2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Mode of pathogenicity for gene: SOS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 SOS1 Sue White gene: SOS1 was added
gene: SOS1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 SHOC2 Sue White gene: SHOC2 was added
gene: SHOC2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair 607721
Lymphoedema v0.0 SHANK3 Sue White gene: SHANK3 was added
gene: SHANK3 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome 606232
Lymphoedema v0.0 RIT1 Sue White gene: RIT1 was added
gene: RIT1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RIT1 were set to 23791108; 24939608; 25124994
Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 RASA1 Sue White gene: RASA1 was added
gene: RASA1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 26969842; 22342634; 23650393
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 608354
Lymphoedema v0.0 RAF1 Sue White gene: RAF1 was added
gene: RAF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAF1 were set to 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome 5 611553; LEOPARD syndrome 2 611554
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 PTPN14 Sue White gene: PTPN14 was added
gene: PTPN14 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN14 were set to 24167460; 20826270
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema, 613611
Lymphoedema v0.0 PTPN11 Sue White gene: PTPN11 was added
gene: PTPN11 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 17497712; 12634870; 15384080; 17603483; 12529711; 15240615; 18678287; 16263833; 11704759
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1 163950; LEOPARD syndrome 1 151100
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Lymphoedema v0.0 PPP1CB Sue White gene: PPP1CB was added
gene: PPP1CB was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2 617506
Lymphoedema v0.0 PMM2 Sue White gene: PMM2 was added
gene: PMM2 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9762608; 15645285; 20638314; 17158594
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Lymphoedema v0.0 PIEZO1 Sue White gene: PIEZO1 was added
gene: PIEZO1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 26333996; 26387913
Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843
Lymphoedema v0.0 NSD1 Sue White gene: NSD1 was added
gene: NSD1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NSD1 were set to 26738611; 9781911
Phenotypes for gene: NSD1 were set to Sotos syndrome 1 117550
Lymphoedema v0.0 NRAS Sue White gene: NRAS was added
gene: NRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRAS were set to 19775298; 19966803
Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 NF1 Sue White gene: NF1 was added
gene: NF1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 19845691; 16380919; 12707950
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321
Lymphoedema v0.0 MAP2K2 Sue White gene: MAP2K2 was added
gene: MAP2K2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K2 were set to 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 MAP2K1 Sue White gene: MAP2K1 was added
gene: MAP2K1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K1 were set to 21396583; 23321623
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3 615279
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 LZTR1 Sue White gene: LZTR1 was added
gene: LZTR1 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564
Lymphoedema v0.0 KRAS Sue White gene: KRAS was added
gene: KRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRAS were set to 21396583
Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 KIF11 Sue White gene: KIF11 was added
gene: KIF11 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF11 were set to 22284827
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950
Lymphoedema v0.0 IKBKG Sue White gene: IKBKG was added
gene: IKBKG was added to Lymphoedema_syndromic. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: IKBKG 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: IKBKG were set to 11242109
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Lymphoedema v0.0 HRAS Sue White gene: HRAS was added
gene: HRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 21396583; 16969868; 16443854; 16170316
Phenotypes for gene: HRAS were set to Costello syndrome 218040
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 GJC2 Sue White gene: GJC2 was added
gene: GJC2 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJC2 were set to Lymphedema, hereditary, IC, 613480
Lymphoedema v0.0 GJA1 Sue White gene: GJA1 was added
gene: GJA1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA1 were set to 23550541
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200
Lymphoedema v0.0 GATA2 Sue White gene: GATA2 was added
gene: GATA2 was added to Lymphoedema_syndromic. Sources: London South GLH,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA2 were set to 21892158
Phenotypes for gene: GATA2 were set to {Myelodysplastic syndrome, susceptibility to} 614286; Emberger Syndrome 614038
Lymphoedema v0.0 FOXC2 Sue White gene: FOXC2 was added
gene: FOXC2 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,London South GLH
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 11078474
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Lymphoedema v0.0 FAT4 Sue White gene: FAT4 was added
gene: FAT4 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT4 were set to 24913602
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546
Lymphoedema v0.0 CHD7 Sue White gene: CHD7 was added
gene: CHD7 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 16155193; 15300250; 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Lymphoedema v0.0 CCBE1 Sue White gene: CCBE1 was added
gene: CCBE1 was added to Lymphoedema_syndromic. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green,London South GLH
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam Lymphangiectasia-Lymphedema Syndrome; Hennekam lymphangiectasia-lymphedema syndrome, 235510
Lymphoedema v0.0 CBL Sue White gene: CBL was added
gene: CBL was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 19571318; 20619386; 20543203
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 BRAF Sue White gene: BRAF was added
gene: BRAF was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 21396583; 19206169
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Lymphoedema v0.0 Sue White Added panel Lymphoedema_syndromic
Microcephaly v0.75 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Microcephaly v0.75 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Microcephaly v0.75 XRCC4 Zornitza Stark Classified gene: XRCC4 as Green List (high evidence)
Microcephaly v0.75 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Mendeliome v0.1010 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Mendeliome v0.1010 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Mendeliome v0.1010 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Mendeliome v0.1009 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Mendeliome v0.1008 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Marked gene: FDXR as ready
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.277 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Deafness_IsolatedAndComplex v0.276 FDXR Zornitza Stark Publications for gene: FDXR were set to
Deafness_IsolatedAndComplex v0.275 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.274 FDXR Zornitza Stark reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965846; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.274 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM#614134
Deafness_IsolatedAndComplex v0.273 COL9A1 Zornitza Stark Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.272 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.272 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM108300
Deafness_IsolatedAndComplex v0.271 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Deafness_IsolatedAndComplex v0.270 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Deafness_IsolatedAndComplex v0.270 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.270 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.269 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408751; Phenotypes: Stickler syndrome, type I, MIM108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.269 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to DOORS syndrome, MIM#220500; Deafness, autosomal dominant 65, MIM#616044; Deafness , autosomal recessive 86, MIM#614617
Deafness_IsolatedAndComplex v0.268 CD151 Zornitza Stark Classified gene: CD151 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.268 CD151 Zornitza Stark Gene: cd151 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.267 CD151 Zornitza Stark edited their review of gene: CD151: Added comment: Deafness not reported in the third family, downgrade to Amber.; Changed rating: AMBER
Deafness_IsolatedAndComplex v0.267 SPTBN4 Zornitza Stark Publications for gene: SPTBN4 were set to 29861105; 28540413
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Marked gene: SPTBN4 as ready
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Gene: sptbn4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.266 SPTBN4 Zornitza Stark Publications for gene: SPTBN4 were set to
Deafness_IsolatedAndComplex v0.265 TUBB4B Lilian Downie reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198720; Phenotypes: Leber congenital amaurosis with early-onset deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.265 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Deafness_IsolatedAndComplex v0.265 SYNE4 Zornitza Stark Marked gene: SYNE4 as ready
Deafness_IsolatedAndComplex v0.265 SYNE4 Zornitza Stark Gene: syne4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.265 SPTBN4 Zornitza Stark Phenotypes for gene: SPTBN4 were changed from to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519
Deafness_IsolatedAndComplex v0.264 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.263 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Deafness_IsolatedAndComplex v0.263 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.263 TRAF7 Lilian Downie reviewed gene: TRAF7: Rating: RED; Mode of pathogenicity: None; Publications: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.263 TBC1D24 Zornitza Stark reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 24729539, 24729547, 24387994, 24291220; Phenotypes: DOORS syndrome, MIM#220500, Deafness, autosomal dominant 65, MIM#616044, Deafness , autosomal recessive 86, MIM#614617; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.263 SYNE4 Zornitza Stark Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540
Deafness_IsolatedAndComplex v0.262 SYNE4 Zornitza Stark Publications for gene: SYNE4 were set to
Deafness_IsolatedAndComplex v0.262 SOX2 Lilian Downie reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30262714, 16932809, 16145681; Phenotypes: Anopthalmia and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.262 SNAI2 Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890
Deafness_IsolatedAndComplex v0.262 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Deafness_IsolatedAndComplex v0.262 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.262 SYNE4 Zornitza Stark Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.261 SYNE4 Zornitza Stark reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.261 SLC4A11 Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
Deafness_IsolatedAndComplex v0.260 SNAI2 Zornitza Stark Publications for gene: SNAI2 were set to
Deafness_IsolatedAndComplex v0.260 SPTBN4 Zornitza Stark Mode of inheritance for gene: SPTBN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.259 SPTBN4 Zornitza Stark reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861105, 28540413; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.259 SNAI2 Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.258 SLC4A11 Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.258 SERPINB6 Zornitza Stark Marked gene: SERPINB6 as ready
Deafness_IsolatedAndComplex v0.258 SERPINB6 Zornitza Stark Gene: serpinb6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.258 SNAI2 Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.258 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.257 SNAI2 Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.257 SLC4A11 Zornitza Stark Publications for gene: SLC4A11 were set to
Deafness_IsolatedAndComplex v0.257 SERPINB6 Zornitza Stark Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453
Deafness_IsolatedAndComplex v0.256 SLITRK6 Lilian Downie reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23543054; Phenotypes: deafness and myopia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.256 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220209; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.256 SLC17A8 Lilian Downie reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674745, 26797701, 28647561; Phenotypes: Non syndrome hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.256 SERPINB6 Zornitza Stark Publications for gene: SERPINB6 were set to
Deafness_IsolatedAndComplex v0.255 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Deafness_IsolatedAndComplex v0.255 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.255 SERPINB6 Zornitza Stark Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.254 SERPINB6 Zornitza Stark reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.254 SIX5 Lilian Downie reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: branchio-oto-renal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.254 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, MIM# 607323 to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.253 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323
Deafness_IsolatedAndComplex v0.253 PAX2 Lilian Downie reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16971658, 8588587; Phenotypes: Papillorenal syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease, type 1E 118300 to Charcot-Marie-Tooth disease, type 1E 118300
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Deafness_IsolatedAndComplex v0.253 PMP22 Zornitza Stark Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Gene: sall1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.253 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480
Deafness_IsolatedAndComplex v0.253 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.252 SALL4 Zornitza Stark reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.252 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Deafness_IsolatedAndComplex v0.251 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.250 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.250 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Deafness_IsolatedAndComplex v0.249 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1E 118300
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Added comment: Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.249 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Deafness_IsolatedAndComplex v0.248 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.248 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Classified gene: PNPT1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Classified gene: PNPT1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.247 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.246 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: None; Publications: 23084290, 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932, Deafness, autosomal recessive 70, MIM#614934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.246 PMP22 Zornitza Stark Classified gene: PMP22 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.246 PMP22 Zornitza Stark Gene: pmp22 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.246 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Deafness_IsolatedAndComplex v0.245 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: None; Publications: 8355122, 10330345, 12578939; Phenotypes: Charcot-Marie-Tooth disease, type 1E 118300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.245 PAX1 Lilian Downie reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23851939, 29681087; Phenotypes: otofaciocervical syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.245 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Deafness_IsolatedAndComplex v0.244 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Deafness_IsolatedAndComplex v0.244 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.244 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.243 PBX1 Zornitza Stark reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.243 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Optic atrophy plus syndrome, MIM# 125250
Deafness_IsolatedAndComplex v0.242 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.241 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.241 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Marked gene: OSBPL2 as ready
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.240 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67, MIM# 616340
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Deafness_IsolatedAndComplex v0.240 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.239 P2RX2 Lilian Downie reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23345450, 24211385; Phenotypes: autosomal dominant deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.239 OSBPL2 Zornitza Stark Publications for gene: OSBPL2 were set to
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Classified gene: NR2F1 as Red List (low evidence)
Deafness_IsolatedAndComplex v0.239 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.238 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 19353646, 24462372; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.238 OSBPL2 Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.237 OSBPL2 Zornitza Stark reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67, MIM# 616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.237 MASP1 Lilian Downie reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.237 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.236 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Deafness_IsolatedAndComplex v0.236 LHX3 Zornitza Stark Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1007 XRCC4 Crystle Lee reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25839420, 25728776; Phenotypes: Short stature, microcephaly, and endocrine dysfunction (MIM#616541); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.74 XRCC4 Crystle Lee gene: XRCC4 was added
gene: XRCC4 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to PMID: 25839420; 25728776
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Review for gene: XRCC4 was set to GREEN
Added comment: Biallelic variants reported in multiple affected families with microcephaly
Sources: Literature
Mendeliome v0.1007 AIMP2 Zornitza Stark Marked gene: AIMP2 as ready
Mendeliome v0.1007 AIMP2 Zornitza Stark Gene: aimp2 has been classified as Red List (Low Evidence).
Mendeliome v0.1007 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Mendeliome v0.1007 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Mendeliome v0.1007 SCRIB Zornitza Stark Marked gene: SCRIB as ready
Mendeliome v0.1007 SCRIB Zornitza Stark Gene: scrib has been classified as Red List (Low Evidence).
Mendeliome v0.1007 SCRIB Zornitza Stark Publications for gene: SCRIB were set to
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Marked gene: KDSR as ready
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Gene: kdsr has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.16 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4 MIM#617526 to Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Epidermolysis bullosa v0.15 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Epidermolysis bullosa v0.14 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.13 KDSR Zornitza Stark Classified gene: KDSR as Red List (low evidence)
Epidermolysis bullosa v0.13 KDSR Zornitza Stark Gene: kdsr has been classified as Red List (Low Evidence).
Mendeliome v0.1006 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Mendeliome v0.1006 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Mendeliome v0.1006 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37, MIM# 615493
Mendeliome v0.1005 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
Mendeliome v0.1004 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1003 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Mendeliome v0.1003 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Mendeliome v0.1002 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Marked gene: ANK3 as ready
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1745 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Publications for gene: ANK3 were set to
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1744 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from to Mental retardation, autosomal recessive, 37 615493
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Classified gene: ANK3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1743 ANK3 Zornitza Stark Gene: ank3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ANK3 Zornitza Stark reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451
Intellectual disability syndromic and non-syndromic v0.1742 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Intellectual disability syndromic and non-syndromic v0.1741 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Classified gene: ALX4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1740 ALX4 Zornitza Stark Gene: alx4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1739 ALX4 Zornitza Stark reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Classified gene: ALX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1739 ALX3 Zornitza Stark Gene: alx3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1738 ALX3 Zornitza Stark edited their review of gene: ALX3: Added comment: Majority have normal intellectual function, demote to Amber.; Changed rating: AMBER
Genetic Epilepsy v0.554 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Genetic Epilepsy v0.554 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Mendeliome v0.1002 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Mendeliome v0.1002 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Classified gene: ALKBH8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1738 ALKBH8 Zornitza Stark Gene: alkbh8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1737 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1737 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1736 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Intellectual disability syndromic and non-syndromic v0.1735 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1734 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Muscle Channelopathies v0.3 Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services
Epidermolysis bullosa v0.11 FLG2 Zornitza Stark Classified gene: FLG2 as Red List (low evidence)
Epidermolysis bullosa v0.11 FLG2 Zornitza Stark Gene: flg2 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.10 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease MIM#601214; Congenital epidermolysis bullosa to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.9 JUP Zornitza Stark Marked gene: JUP as ready
Epidermolysis bullosa v0.9 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.9 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.9 JUP Zornitza Stark Publications for gene: JUP were set to 21320868; 29173316
Epidermolysis bullosa v0.8 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease MIM#601214; Congenital epidermolysis bullosa
Epidermolysis bullosa v0.8 JUP Zornitza Stark Publications for gene: JUP were set to
Epidermolysis bullosa v0.7 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Epidermolysis bullosa v0.6 FLG2 Bryony Thompson reviewed gene: FLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6, MIM# 618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.6 KDSR Bryony Thompson changed review comment from: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.; to: No reported evidence that epidermolysis bullosa specifically is associated with this gene. The gene appears to be better suited to the Palmoplantar Keratoderma and Erythrokeratoderma panel.
Epidermolysis bullosa v0.6 FLG2 Bryony Thompson Deleted their review
Epidermolysis bullosa v0.6 KDSR Bryony Thompson reviewed gene: KDSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 4 MIM#617526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.6 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Epidermolysis bullosa v0.6 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.5 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Epidermolysis bullosa v0.4 FLG2 Bryony Thompson reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6 MIM#618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.4 JUP Bryony Thompson reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: 21320868, 29173316; Phenotypes: Naxos disease MIM#601214, Congenital epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Marked gene: ATP6V1C2 as ready
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark Gene: atp6v1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.1001 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Review for gene: ATP6V1C2 was set to RED
Added comment: Single family reported, limited functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1733 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Intellectual disability syndromic and non-syndromic v0.1732 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1731 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31921405, 28472301, 25620733; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1000 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Mendeliome v0.1000 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Mendeliome v0.1000 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to
Intellectual disability syndromic and non-syndromic v0.1731 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG syndrome, MIM # 148050 to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Intellectual disability syndromic and non-syndromic v0.1730 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.999 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050
Mendeliome v0.998 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.997 AGGF1 Zornitza Stark Marked gene: AGGF1 as ready
Mendeliome v0.997 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Mendeliome v0.997 AGGF1 Zornitza Stark Classified gene: AGGF1 as Red List (low evidence)
Mendeliome v0.997 AGGF1 Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence).
Mendeliome v0.996 AGGF1 Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pulmonary Arterial Hypertension v0.40 NOTCH3 Bryony Thompson Classified gene: NOTCH3 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.40 NOTCH3 Bryony Thompson Gene: notch3 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.39 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512
Phenotypes for gene: NOTCH3 were set to Pulmonary arterial hypertension
Mode of pathogenicity for gene: NOTCH3 was set to Other
Review for gene: NOTCH3 was set to AMBER
Added comment: Mice with homozygous deletion of Notch3 do not develop pulmonary hypertension in response to hypoxic stimulation, and pulmonary hypertension can be successfully treated in mice by administration of DAPT, a gamma-secretase inhibitor that blocks activation of Notch3 in smooth muscle cells. Suggesting a gain-of-function mechanism. Two putative gain-of-function missense identified in two PAH cases.
Sources: Literature
Mendeliome v0.996 ANKRD11 Ain Roesley reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31191201, 31337854; Phenotypes: KBG syndrome (MIM # 148050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v0.38 BMP10 Bryony Thompson Classified gene: BMP10 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.38 BMP10 Bryony Thompson Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.37 BMP10 Bryony Thompson gene: BMP10 was added
gene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP10 were set to 30578383
Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension
Review for gene: BMP10 was set to AMBER
Added comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients.
Sources: Literature
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Classified gene: SMAD4 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Added comment: Comment on list classification: Two reported cases with PAH
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Gene: smad4 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.35 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD4 were set to 21898662
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension
Review for gene: SMAD4 was set to AMBER
Added comment: A missense with reduced in vitro signalling activity and a putative splice site mutation resulting in moderate transcript loss due to compromised splicing efficiency were identified in two PAH cases.
Sources: Literature
Pulmonary Arterial Hypertension v0.34 SMAD1 Bryony Thompson Classified gene: SMAD1 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.34 SMAD1 Bryony Thompson Gene: smad1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.33 SMAD1 Bryony Thompson gene: SMAD1 was added
gene: SMAD1 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD1 were set to 21898662; 23478097
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Review for gene: SMAD1 was set to AMBER
Added comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension.
Sources: Literature
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 31913656, 30161219; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Deleted their review
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Classified gene: G6PD as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Gene: g6pd has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.31 G6PD Bryony Thompson Mode of inheritance for gene: G6PD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pulmonary Arterial Hypertension v0.30 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: G6PD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: G6PD were set to 31913656; 30161219
Phenotypes for gene: G6PD were set to Pulmonary arterial hypertension
Review for gene: G6PD was set to AMBER
Added comment: One idiopathic PAH case had a missense that resulted in severe G6PD deficiency and another case had a missense associated with a 20% decrease in G6PD function. Inhibition of G6PD activity with a potent G6PD inhibitor, decreased haematopoietic stem cells in hypoxic mice, causing pulmonary hypertension.
Sources: Literature
Pulmonary Arterial Hypertension v0.29 KLF2 Bryony Thompson gene: KLF2 was added
gene: KLF2 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF2 were set to 28188237
Phenotypes for gene: KLF2 were set to Pulmonary arterial hypertension
Review for gene: KLF2 was set to RED
Added comment: A missense variant reported in a single PAH family.
Sources: Literature
Pulmonary Arterial Hypertension v0.28 BRAP Bryony Thompson gene: BRAP was added
gene: BRAP was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAP were set to 30703135
Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension
Review for gene: BRAP was set to AMBER
Added comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function.
Sources: Literature
Pulmonary Arterial Hypertension v0.27 ABCC8 Bryony Thompson Classified gene: ABCC8 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.27 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.26 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC8 were set to 31406341; 30354297
Phenotypes for gene: ABCC8 were set to Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension
Review for gene: ABCC8 was set to GREEN
Added comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Literature
Pulmonary Arterial Hypertension v0.25 SOX17 Bryony Thompson Classified gene: SOX17 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.25 SOX17 Bryony Thompson Gene: sox17 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.24 SOX17 Bryony Thompson reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.24 GDF2 Bryony Thompson Classified gene: GDF2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.24 GDF2 Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.23 GDF2 Bryony Thompson reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31661308; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: None
Pulmonary Arterial Hypertension v0.23 ENG Bryony Thompson Classified gene: ENG as Green List (high evidence)
Pulmonary Arterial Hypertension v0.23 ENG Bryony Thompson Gene: eng has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.22 ENG Bryony Thompson reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30336550; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.22 BMPR1B Bryony Thompson reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: Other; Publications: 22374147; Phenotypes: Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.22 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.22 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.21 ATP13A3 Bryony Thompson reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31798832, 30679663, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.21 AQP1 Bryony Thompson Classified gene: AQP1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.21 AQP1 Bryony Thompson Gene: aqp1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.20 AQP1 Bryony Thompson reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.996 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Mendeliome v0.995 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Mendeliome v0.994 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.993 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Mendeliome v0.993 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Mendeliome v0.992 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Further cases identified. Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.553 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Genetic Epilepsy v0.553 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.553 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from to Epileptic encephalopathy, early infantile, 15 , MIM#615006
Genetic Epilepsy v0.552 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Genetic Epilepsy v0.551 ST3GAL3 Zornitza Stark Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.550 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Amber List (moderate evidence)
Genetic Epilepsy v0.550 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.549 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Genetic Epilepsy v0.549 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Classified gene: ALDOB as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1729 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 ALDOB Zornitza Stark edited their review of gene: ALDOB: Added comment: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; Changed rating: RED
Mendeliome v0.992 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Mendeliome v0.992 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Mendeliome v0.992 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Mendeliome v0.992 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Mendeliome v0.991 CTBP1 Zornitza Stark gene: CTBP1 was added
gene: CTBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
gene: CTBP1 was marked as current diagnostic
Added comment: At least 12 unrelated individuals reported with this neurodevelopmental disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Marked gene: CTBP1 as ready
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1728 CTBP1 Zornitza Stark Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1727 CTBP1 Sebastian Lunke gene: CTBP1 was added
gene: CTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
gene: CTBP1 was marked as current diagnostic
Added comment: From GEL: There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1726 AHCY Zornitza Stark Publications for gene: AHCY were set to
Intellectual disability syndromic and non-syndromic v0.1725 AHCY Zornitza Stark edited their review of gene: AHCY: Changed publications: 31957987, 27671891, 30121674, 28779239
Mendeliome v0.990 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Mendeliome v0.990 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Mendeliome v0.990 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Mendeliome v0.990 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Mendeliome v0.989 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Marked gene: AGO1 as ready
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Classified gene: AGO1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1725 AGO1 Zornitza Stark Gene: ago1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1724 AGO1 Zornitza Stark gene: AGO1 was added
gene: AGO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Phenotypes for gene: AGO1 were set to Intellectual disability; autism
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Mendeliome v0.988 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Mendeliome v0.988 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Mendeliome v0.988 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Mendeliome v0.988 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Mendeliome v0.987 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Marked gene: CNOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Classified gene: CNOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1723 CNOT2 Sebastian Lunke Gene: cnot2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1722 CNOT2 Sebastian Lunke gene: CNOT2 was added
gene: CNOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608
Review for gene: CNOT2 was set to GREEN
gene: CNOT2 was marked as current diagnostic
Added comment: From GEL: Three independent patients with non-sense or intra-genic deletions
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Marked gene: AGL as ready
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1721 AGL Zornitza Stark Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa, MIM# 232400
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Classified gene: AGL as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1720 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 AGL Zornitza Stark reviewed gene: AGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Marked gene: CNOT1 as ready
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Classified gene: CNOT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1719 CNOT1 Sebastian Lunke Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1718 CNOT1 Sebastian Lunke gene: CNOT1 was added
gene: CNOT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT1 were set to 31006510; 21679367; 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: From GEL: More than three independent families previously described
Sources: Expert list
Hydrocephalus_Ventriculomegaly v0.15 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Hydrocephalus_Ventriculomegaly v0.14 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600
Hydrocephalus_Ventriculomegaly v0.14 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.986 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Mendeliome v0.985 CCDC88C Sebastian Lunke Publications for gene: CCDC88C were set to 25062847; 30398676
Hydrocephalus_Ventriculomegaly v0.13 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.984 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.983 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Mendeliome v0.983 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.12 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.12 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Mendeliome v0.982 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079, 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053, Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrocephalus_Ventriculomegaly v0.11 CCDC88C Zornitza Stark edited their review of gene: CCDC88C: Added comment: Three families reported with this phenotype; note also possible link to SCA, mono-allelic variants, two families.; Changed rating: GREEN; Changed publications: 23042809, 21031079; Changed phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1717 ACAT1 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053 to Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Intellectual disability syndromic and non-syndromic v0.1717 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1716 CCDC88C Sebastian Lunke Mode of inheritance for gene: CCDC88C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Classified gene: CCDC88C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1715 CCDC88C Sebastian Lunke Gene: ccdc88c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1714 CCDC88C Sebastian Lunke reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23042809, 21031079; Phenotypes: Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.982 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Mendeliome v0.982 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Mendeliome v0.981 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1714 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Classified gene: CCDC47 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1713 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Marked gene: CCDC47 as ready
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke Gene: ccdc47 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1712 CCDC47 Sebastian Lunke gene: CCDC47 was added
gene: CCDC47 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Trichohepatoneurodevelopmental syndrome, 618268
Review for gene: CCDC47 was set to GREEN
gene: CCDC47 was marked as current diagnostic
Added comment: From GEL: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1711 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM# 203750
Intellectual disability syndromic and non-syndromic v0.1710 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Classified gene: ACAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1709 ACAT1 Zornitza Stark Gene: acat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark commented on gene: ACAT1: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.
Intellectual disability syndromic and non-syndromic v0.1708 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM# 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1708 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from 2-methylbutyrylglycinuria, MIM# 610006 to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1707 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria, MIM# 610006
Intellectual disability syndromic and non-syndromic v0.1706 ACADSB Zornitza Stark Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Classified gene: ACADSB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1705 ACADSB Zornitza Stark Gene: acadsb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 ACADSB Zornitza Stark reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, MIM# 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.980 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Mendeliome v0.980 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Mendeliome v0.980 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.979 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Mendeliome v0.978 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Mendeliome v0.977 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Mendeliome v0.977 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Marked gene: CLIC2 as ready
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Phenotypes for gene: CLIC2 were changed from to Mental retardation, X-linked, syndromic 32, 300886
Intellectual disability syndromic and non-syndromic v0.1704 CLIC2 Zornitza Stark Publications for gene: CLIC2 were set to
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Mode of inheritance for gene: CLIC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Classified gene: CLIC2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1703 CLIC2 Zornitza Stark Gene: clic2 has been classified as Red List (Low Evidence).
Mendeliome v0.976 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1702 CLIC2 Zornitza Stark reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 22814392, 25927380; Phenotypes: Mental retardation, X-linked, syndromic 32, 300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.976 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.976 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Mendeliome v0.976 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Mendeliome v0.975 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease
Sources: Expert Review
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Marked gene: IKZF5 as ready
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Classified gene: IKZF5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.6 IKZF5 Zornitza Stark Gene: ikzf5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.5 IKZF5 Zornitza Stark gene: IKZF5 was added
gene: IKZF5 was added to Bleeding Disorders. Sources: Expert Review
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia
Review for gene: IKZF5 was set to GREEN
Added comment: Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease.
Sources: Expert Review
Ciliary Dyskinesia v0.17 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Ciliary Dyskinesia v0.17 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.974 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Mendeliome v0.974 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Ciliary Dyskinesia v0.16 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.974 TTC12 Zornitza Stark Classified gene: TTC12 as Green List (high evidence)
Mendeliome v0.974 TTC12 Zornitza Stark Gene: ttc12 has been classified as Green List (High Evidence).
Mendeliome v0.973 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Ciliary Dyskinesia v0.15 TTC12 Zornitza Stark gene: TTC12 was added
gene: TTC12 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia
Review for gene: TTC12 was set to GREEN
Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1702 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine 617301 to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine 617301
Intellectual disability syndromic and non-syndromic v0.1701 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Intellectual disability syndromic and non-syndromic v0.1700 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1699 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429; Phenotypes: Glycine encephalopathy with normal serum glycine 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.972 GCSH Zornitza Stark Marked gene: GCSH as ready
Mendeliome v0.972 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Mendeliome v0.972 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM# 605899
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Marked gene: DHFR as ready
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Mendeliome v0.971 STT3B Zornitza Stark Marked gene: STT3B as ready
Mendeliome v0.971 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Mendeliome v0.971 GCSH Zornitza Stark Publications for gene: GCSH were set to
Mendeliome v0.970 GCSH Zornitza Stark Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.969 GCSH Zornitza Stark Classified gene: GCSH as Red List (low evidence)
Mendeliome v0.969 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Mendeliome v0.968 GCSH Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1699 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Genetic Epilepsy v0.549 DHFR Zornitza Stark Marked gene: DHFR as ready
Genetic Epilepsy v0.549 DHFR Zornitza Stark Gene: dhfr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.549 DHFR Zornitza Stark Classified gene: DHFR as Amber List (moderate evidence)
Genetic Epilepsy v0.549 DHFR Zornitza Stark Gene: dhfr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.968 STT3B Zornitza Stark Publications for gene: STT3B were set to 23842455
Genetic Epilepsy v0.548 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to AMBER
Added comment: Three unrelated families reported, neurological disease in some severe (including seizures), others predominantly haematological presentation.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1698 DHFR Zornitza Stark Publications for gene: DHFR were set to
Intellectual disability syndromic and non-syndromic v0.1697 DHFR Zornitza Stark Mode of inheritance for gene: DHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1696 DHFR Zornitza Stark reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.967 STT3B Zornitza Stark Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.966 STT3B Zornitza Stark Publications for gene: STT3B were set to
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Marked gene: STT3B as ready
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Mendeliome v0.965 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from Congenital disorder of glycosylation, type Ix 615597 to Congenital disorder of glycosylation, type Ix 615597
Mendeliome v0.964 STT3B Zornitza Stark Classified gene: STT3B as Red List (low evidence)
Mendeliome v0.964 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.28 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597
Congenital Disorders of Glycosylation v0.28 STT3B Zornitza Stark Publications for gene: STT3B were set to
Mendeliome v0.963 STT3B Zornitza Stark reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: 23842455; Phenotypes: Congenital disorder of glycosylation, type Ix 615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1696 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.27 STT3B Zornitza Stark Classified gene: STT3B as Red List (low evidence)
Congenital Disorders of Glycosylation v0.27 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.26 STT3B Zornitza Stark reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: 23842455; Phenotypes: Congenital disorder of glycosylation, type Ix 615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.963 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Mendeliome v0.963 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Mendeliome v0.963 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Green List (high evidence)
Genetic Epilepsy v0.547 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Mendeliome v0.962 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Mendeliome v0.961 SLC39A8 Zornitza Stark Mode of inheritance for gene: SLC39A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.546 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Review for gene: SLC39A8 was set to GREEN
Added comment: 6 individuals from Hutterite descent and two other unrelated families reported. Seizures reported in 2 Hutterite individuals and also in the other two unrelated families.
Sources: Expert Review
Genetic Epilepsy v0.545 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1695 SLC39A8 Zornitza Stark Mode of inheritance for gene: SLC39A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.25 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Review for gene: SLC39A8 was set to GREEN
gene: SLC39A8 was marked as current diagnostic
Added comment: 6 individuals from Hutterite descent and two other unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn , MIM#16721
Intellectual disability syndromic and non-syndromic v0.1694 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Intellectual disability syndromic and non-syndromic v0.1693 SLC39A8 Zornitza Stark reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Genetic Epilepsy v0.544 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.543 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28328131; 24031089; 28777481
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Review for gene: SLC35A3 was set to AMBER
Added comment: Three families reported; seizures in two.
Sources: Expert Review
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.24 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Congenital Disorders of Glycosylation v0.24 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Classified gene: SLC35A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.541 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 28856833; 23873973; 11157507
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, MIM# 603585
Review for gene: SLC35A1 was set to AMBER
Added comment: Three unrelated families reported, neurological presentation including seizures in two.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.23 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
Congenital Disorders of Glycosylation v0.22 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Marked gene: PIGS as ready
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.21 SLC35A1 Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.20 SLC35A1 Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.540 PIGS Zornitza Stark Marked gene: PIGS as ready
Genetic Epilepsy v0.540 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1692 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Genetic Epilepsy v0.540 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Genetic Epilepsy v0.540 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.539 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Mendeliome v0.960 PIGS Zornitza Stark Marked gene: PIGS as ready
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.960 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Marked gene: PIGS as ready
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.959 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE
Sources: Expert Review
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.19 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814,
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.18 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Congenital Disorders of Glycosylation v0.17 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Marked gene: FUK as ready
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1690 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Mendeliome v0.958 FUK Zornitza Stark Marked gene: FUK as ready
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.958 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.538 FUK Zornitza Stark Marked gene: FUK as ready
Genetic Epilepsy v0.538 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.957 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.538 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Genetic Epilepsy v0.538 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.537 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported; seizures prominent part of the clinical presentation in both.
Sources: Literature
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Marked gene: FUK as ready
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.15 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.955 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1688 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.536 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Genetic Epilepsy v0.536 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317
Genetic Epilepsy v0.535 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Genetic Epilepsy v0.535 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.534 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Genetic Epilepsy v0.534 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: Seven individuals from four unrelated families; 5/7 had seizures.
Sources: Expert list
Genetic Epilepsy v0.533 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Classified gene: ZDHHC9 as Green List (high evidence)
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.531 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to 26000327
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, MIM#300799
Review for gene: ZDHHC9 was set to GREEN
gene: ZDHHC9 was marked as current diagnostic
Added comment: A third of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.530 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 21834044, 20890278, 20729831; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Genetic Epilepsy v0.529 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Genetic Epilepsy v0.528 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.527 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1686 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.526 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported, most affected individuals had seizures as part of this mitochondrial disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1684 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals. 13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.524 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
gene: VPS11 was marked as current diagnostic
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals.

13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Gene: vldlr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.522 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050
Genetic Epilepsy v0.522 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Genetic Epilepsy v0.521 VLDLR Zornitza Stark Classified gene: VLDLR as Amber List (moderate evidence)
Genetic Epilepsy v0.521 VLDLR Zornitza Stark Gene: vldlr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.520 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: None; Publications: 16174313, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.519 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Review for gene: VAMP2 was set to GREEN
gene: VAMP2 was marked as current diagnostic
Added comment: Five unrelated individuals reported, three had seizures as part of the phenotype of this neurodevelopmental condition.
Sources: Expert list
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Classified gene: TUBB2A as Green List (high evidence)
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.517 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, MIM#615763
Review for gene: TUBB2A was set to GREEN
gene: TUBB2A was marked as current diagnostic
Added comment: Seizures are part of the phenotype of the tubulinopathies.
Sources: Expert list
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 to Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Genetic Epilepsy v0.515 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Genetic Epilepsy v0.514 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Genetic Epilepsy v0.513 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.512 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481326, 19896110; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM#613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.512 TSFM Zornitza Stark Marked gene: TSFM as ready
Genetic Epilepsy v0.512 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.512 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505
Genetic Epilepsy v0.511 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia, type 2F, MIM#617026
Genetic Epilepsy v0.509 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Genetic Epilepsy v0.508 TSEN2 Zornitza Stark Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 18711368, 20952379; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM#617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Phenotypes for gene: TRRAP were changed from to Developmental delay with or without dysmorphic facies and autism, MIM#618454
Genetic Epilepsy v0.506 TRRAP Zornitza Stark Publications for gene: TRRAP were set to
Genetic Epilepsy v0.505 TRRAP Zornitza Stark Mode of inheritance for gene: TRRAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRRAP Zornitza Stark reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496, 28628100; Phenotypes: Developmental delay with or without dysmorphic facies and autism, MIM#618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Marked gene: TRPM6 as ready
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Classified gene: TRPM6 as Green List (high evidence)
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.503 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM#602014
Review for gene: TRPM6 was set to GREEN
gene: TRPM6 was marked as current diagnostic
Added comment: Can present with seizures.
Sources: Expert list
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Additional unpublished case reported by GEL PanelApp.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.500 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1679 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.497 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.496 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Genetic Epilepsy v0.495 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Classified gene: TRAF7 as Amber List (moderate evidence)
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.493 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29961569, 27479843, 28135719, 25363760, 25961944; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Marked gene: TNK2 as ready
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Gene: tnk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Phenotypes for gene: TNK2 were changed from to severe infantile onset epilepsy
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Publications for gene: TNK2 were set to
Genetic Epilepsy v0.492 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TNK2 Zornitza Stark reviewed gene: TNK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27977884, 23686771; Phenotypes: severe infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Genetic Epilepsy v0.489 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Classified gene: TMEM70 as Amber List (moderate evidence)
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.487 TMEM70 Zornitza Stark reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: None; Publications: 18953340, 21147908; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Added comment: Comment when marking as ready: At least 4 families reported, all affected individuals had seizures.
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM#617698
Genetic Epilepsy v0.486 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Genetic Epilepsy v0.485 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM#617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.483 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 24658003; 30109272; 31410782
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949
Review for gene: TDP2 was set to GREEN
gene: TDP2 was marked as current diagnostic
Added comment: At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features.
Sources: Expert list
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663
Genetic Epilepsy v0.481 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to 24239381
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Classified gene: TBC1D20 as Amber List (moderate evidence)
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.478 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.477 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878
Review for gene: TANGO2 was set to GREEN
gene: TANGO2 was marked as current diagnostic
Added comment: Seizures present in around 80% of reported individuals.
Sources: Expert list
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to 26475597; 27484306
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Classified gene: SUCLG1 as Amber List (moderate evidence)
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.473 SUCLG1 Zornitza Stark reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26475597, 27484306; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15 , MIM#615006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.472 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
gene: SPATA5 was marked as current diagnostic
Added comment: More than 15 families have been reported in multiple publications. Clinical features include intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay.
Sources: Expert list
Genetic Epilepsy v0.471 SMS Zornitza Stark Marked gene: SMS as ready
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.471 SMS Zornitza Stark Classified gene: SMS as Green List (high evidence)
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.470 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMS were set to 30237987
Phenotypes for gene: SMS were set to Mental retardation X-linked Snyder-Robinson type, 309583
Review for gene: SMS was set to GREEN
gene: SMS was marked as current diagnostic
Added comment: Seizures reported in some affected individuals.
Sources: Expert list
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence)
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.468 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA2 were set to 22366787; 22426308; 27665729
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome, MIM# 601358
Review for gene: SMARCA2 was set to GREEN
gene: SMARCA2 was marked as current diagnostic
Added comment: Seizures reported in about half of affected individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1677 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.466 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM#157170
Genetic Epilepsy v0.464 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Classified gene: SIX3 as Amber List (moderate evidence)
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.462 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.462 SHH Zornitza Stark Marked gene: SHH as ready
Genetic Epilepsy v0.462 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.462 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Hypothalamic hamartoma
Genetic Epilepsy v0.461 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to Other
Genetic Epilepsy v0.460 SHH Zornitza Stark Tag somatic tag was added to gene: SHH.
Genetic Epilepsy v0.460 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothalamic hamartoma; Mode of inheritance: Other
Genetic Epilepsy v0.460 SGSH Zornitza Stark Marked gene: SGSH as ready
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.460 SGSH Zornitza Stark Classified gene: SGSH as Green List (high evidence)
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.459 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 21061399; 30593151
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900
Review for gene: SGSH was set to GREEN
gene: SGSH was marked as current diagnostic
Added comment: Seizures reported in over half of affected individuals.
Sources: Expert list
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Marked gene: SETD1B as ready
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Gene: setd1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Publications for gene: SETD1B were set to
Genetic Epilepsy v0.457 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability
Genetic Epilepsy v0.456 SETD1B Zornitza Stark Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SETD1B Zornitza Stark reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29322246, 31440728, 31685013; Phenotypes: Epilepsy with myoclonic absences, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SDHA Zornitza Stark Marked gene: SDHA as ready
Genetic Epilepsy v0.455 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.455 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from Leigh syndrome, MIM#256000 to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.453 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Genetic Epilepsy v0.453 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.452 SDHA Zornitza Stark reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.452 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM#617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.954 RALA Zornitza Stark Marked gene: RALA as ready
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.954 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.953 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
gene: RALA was marked as current diagnostic
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.452 RALA Zornitza Stark Marked gene: RALA as ready
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.452 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.451 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225 to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.449 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.448 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Martsolf syndrome, MIM#212720, Warburg micro syndrome 2, MIM#614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM#600118
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.443 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20512159; Phenotypes: Warburg micro syndrome 1, MIM#600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.443 QDPR Zornitza Stark Marked gene: QDPR as ready
Genetic Epilepsy v0.443 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.443 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM#261630
Genetic Epilepsy v0.442 QDPR Zornitza Stark Publications for gene: QDPR were set to
Genetic Epilepsy v0.441 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 26006720; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM#261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from Pancreatic and cerebellar agenesis, MIM#609069 to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Genetic Epilepsy v0.438 PTF1A Zornitza Stark Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Classified gene: PTF1A as Amber List (moderate evidence)
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.436 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 21749365, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM#609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.436 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM#158350 to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Marked gene: PTEN as ready
Genetic Epilepsy v0.435 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Genetic Epilepsy v0.435 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Publications for gene: PTEN were set to 9832032; 29033429; 29444762
Genetic Epilepsy v0.434 PTEN Zornitza Stark Publications for gene: PTEN were set to
Genetic Epilepsy v0.434 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9832032, 29033429, 29444762; Phenotypes: Cowden syndrome 1, MIM#158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PSPH Zornitza Stark Marked gene: PSPH as ready
Genetic Epilepsy v0.433 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.433 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency, MIM#614023
Genetic Epilepsy v0.432 PSPH Zornitza Stark Publications for gene: PSPH were set to
Genetic Epilepsy v0.431 PSPH Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.430 PSPH Zornitza Stark Classified gene: PSPH as Amber List (moderate evidence)
Genetic Epilepsy v0.430 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSPH Zornitza Stark reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25080166, 26589312, 14673469; Phenotypes: Phosphoserine phosphatase deficiency, MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency, MIM#610992 to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.428 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.427 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Genetic Epilepsy v0.426 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.424 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17436247, 26610677, 26960553; Phenotypes: Phosphoserine aminotransferase deficiency, MIM#610992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.423 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354
Review for gene: PPP2CA was set to GREEN
gene: PPP2CA was marked as current diagnostic
Added comment: 16 individuals with heterozygous pathogenic PPP2CA variants. Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability. Seizures are seen in 9 of 16 individuals.
Sources: Expert list
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Classified gene: POMT2 as Amber List (moderate evidence)
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.419 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.418 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA was changed from to Other
Genetic Epilepsy v0.417 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3, MIM#614652
Genetic Epilepsy v0.415 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Classified gene: PDSS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.413 PDSS2 Zornitza Stark reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17186472, 29032433; Phenotypes: Coenzyme Q10 deficiency, primary, 3, MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.412 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 30290153; 31504246
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Review for gene: PAK1 was set to GREEN
gene: PAK1 was marked as current diagnostic
Added comment: Six unrelated individuals with de novo variants int his gene reported.
Sources: Expert list
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5 610125
Genetic Epilepsy v0.410 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Genetic Epilepsy v0.409 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Classified gene: OTX2 as Amber List (moderate evidence)
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19965921, 15846561; Phenotypes: Microphthalmia, syndromic 5 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.406 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Genetic Epilepsy v0.405 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Classified gene: NUBPL as Amber List (moderate evidence)
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.403 NUBPL Zornitza Stark reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 23553477, 20818383; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM#617201
Genetic Epilepsy v0.402 NEDD4L Zornitza Stark Publications for gene: NEDD4L were set to
Genetic Epilepsy v0.401 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28515470, 23934111, 28212375, 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.399 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Genetic Epilepsy v0.398 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Classified gene: NDUFS7 as Amber List (moderate evidence)
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS7 Zornitza Stark reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17604671, 17275378, 15269216; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.395 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Genetic Epilepsy v0.394 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 27290639; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.391 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.388 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Genetic Epilepsy v0.387 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 28853723, 19463981; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.383 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.234 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.233 MYO3A Zornitza Stark Publications for gene: MYO3A were set to
Deafness_IsolatedAndComplex v0.232 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Marked gene: GRAP as ready
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Genetic Epilepsy v0.383 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, MIM#252010 to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Genetic Epilepsy v0.381 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.379 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23266820, 22036843, 20819849; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.378 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.377 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Genetic Epilepsy v0.376 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Red List (low evidence)
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.374 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: RED; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM#618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.374 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Genetic Epilepsy v0.372 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.370 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 18513682; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.369 NDP Zornitza Stark Marked gene: NDP as ready
Genetic Epilepsy v0.369 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, MIM#310600 to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Genetic Epilepsy v0.368 NDP Zornitza Stark Publications for gene: NDP were set to
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.367 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.367 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.366 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genetic Epilepsy v0.366 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.365 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: 17334993; Phenotypes: Norrie disease, MIM#310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Marked gene: NBEA as ready
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1675 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.952 NBEA Zornitza Stark Marked gene: NBEA as ready
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.952 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.951 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder
Sources: Expert list
Genetic Epilepsy v0.365 NBEA Zornitza Stark Marked gene: NBEA as ready
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.365 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.364 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder, more than half had epilepsy.
Sources: Expert list
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Genetic Epilepsy v0.362 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Genetic Epilepsy v0.361 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Classified gene: NAA10 as Red List (low evidence)
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.359 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: RED; Mode of pathogenicity: None; Publications: 11426460; Phenotypes: Microphthalmia, syndromic 1 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.359 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Marked gene: MTR as ready
Genetic Epilepsy v0.358 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.358 MTR Zornitza Stark Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Publications for gene: MTR were set to
Genetic Epilepsy v0.357 MTR Zornitza Stark Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MTR Zornitza Stark Deleted their comment
Genetic Epilepsy v0.356 MTR Zornitza Stark commented on gene: MTR: Seizures are part of the phenotype of this metabolic disorder.
Genetic Epilepsy v0.356 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25526710, 9683607, 28666289; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Classified gene: MFSD8 as Green List (high evidence)
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.355 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD8 were set to 30249282; 30144815; 30301600; 28586915
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Review for gene: MFSD8 was set to GREEN
gene: MFSD8 was marked as current diagnostic
Added comment: Seizures are a common feature of this neurodegenerative disorder.
Sources: Expert list
Genetic Epilepsy v0.354 MANBA Zornitza Stark Marked gene: MANBA as ready
Genetic Epilepsy v0.354 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.353 MANBA Zornitza Stark Publications for gene: MANBA were set to
Genetic Epilepsy v0.352 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM#248510
Genetic Epilepsy v0.351 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.350 MANBA Zornitza Stark Classified gene: MANBA as Amber List (moderate evidence)
Genetic Epilepsy v0.350 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.349 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 12468273, 22369051; Phenotypes: Mannosidosis, beta, MIM#248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1673 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo, likely GoF variants in this gene.
Sources: Expert list
Mendeliome v0.950 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Mendeliome v0.950 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.949 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.15 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.7 PRKN Michelle Torres reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16476817, PMID: 14519684; Phenotypes: Parkinson disease, juvenile, type 2 600116 AR, Adenocarcinoma of lung, somatic 211980, Ovarian cancer, somatic 167000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.348 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.347 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, MIM#214500 to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Marked gene: LYST as ready
Genetic Epilepsy v0.346 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.346 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Publications for gene: LYST were set to
Genetic Epilepsy v0.345 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.344 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Genetic Epilepsy v0.344 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LYST Zornitza Stark reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 10450360; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.343 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.343 LNPK Zornitza Stark Marked gene: LNPK as ready
Genetic Epilepsy v0.343 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LNPK Zornitza Stark Publications for gene: LNPK were set to 30032983
Genetic Epilepsy v0.342 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.342 LNPK Zornitza Stark Publications for gene: LNPK were set to
Genetic Epilepsy v0.342 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Classified gene: SOX18 as Red List (low evidence)
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Gene: sox18 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.341 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Genetic Epilepsy v0.341 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.340 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.339 LNPK Zornitza Stark reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Classified gene: BMPR1B as Red List (low evidence)
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Classified gene: TBX4 as Red List (low evidence)
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Gene: tbx4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1672 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.339 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Green List (High Evidence).
Mendeliome v0.948 Zornitza Stark removed gene:LNP1 from the panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Classified gene: SOX17 as Red List (low evidence)
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Gene: sox17 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Classified gene: SMAD9 as Red List (low evidence)
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Added comment: Comment on list classification: Moved to the pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Gene: smad9 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Genetic Epilepsy v0.336 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840
Genetic Epilepsy v0.336 LIPT2 Zornitza Stark Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LIPT2 Zornitza Stark reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28757203; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.333 KPTN Zornitza Stark Marked gene: KPTN as ready
Genetic Epilepsy v0.333 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from to Mental retardation, autosomal recessive 4, MIM#1615637
Genetic Epilepsy v0.332 KPTN Zornitza Stark Publications for gene: KPTN were set to
Genetic Epilepsy v0.331 KPTN Zornitza Stark Mode of inheritance for gene: KPTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Marked gene: PTPN14 as ready
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Classified gene: PTPN14 as Red List (low evidence)
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Added comment: Comment on list classification: No evidence for vascular malformations. The gene has been added to the lymphoedema panel.
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.330 KPTN Zornitza Stark Classified gene: KPTN as Amber List (moderate evidence)
Genetic Epilepsy v0.330 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.329 KPTN Zornitza Stark reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25847626, 24239382; Phenotypes: Mental retardation, autosomal recessive 4, MIM#1615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson reviewed gene: PTPN14: Rating: RED; Mode of pathogenicity: None; Publications: 22233626, 29932521; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson Deleted their review
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Classified gene: PIEZO1 as Red List (low evidence)
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Gene: piezo1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Classified gene: KIF11 as Red List (low evidence)
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Gene: kif11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Classified gene: KCNK3 as Red List (low evidence)
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Added comment: Comment on list classification: Moved to the Pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Classified gene: GJC2 as Red List (low evidence)
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Gene: gjc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Classified gene: GATA2 as Red List (low evidence)
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Gene: gata2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Classified gene: FOXC2 as Red List (low evidence)
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Gene: foxc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Classified gene: FLT4 as Red List (low evidence)
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Gene: flt4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Classified gene: FAT4 as Red List (low evidence)
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Gene: fat4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Red List (low evidence)
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Classified gene: CCBE1 as Red List (low evidence)
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Gene: ccbe1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Classified gene: CAV1 as Red List (low evidence)
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Gene: cav1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Classified gene: BMPR2 as Red List (low evidence)
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Red List (low evidence)
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Classified gene: AQP1 as Red List (low evidence)
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Gene: aqp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Classified gene: KMT2E as Green List (high evidence)
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.328 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2E were set to 31079897
Phenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures
Review for gene: KMT2E was set to GREEN
gene: KMT2E was marked as current diagnostic
Added comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures.
Sources: Expert list
Genetic Epilepsy v0.327 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome, MIM# 609460 to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to 28277559
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Classified gene: KIF1BP as Amber List (moderate evidence)
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 KIF1BP Zornitza Stark reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.947 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Mendeliome v0.947 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Mendeliome v0.947 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from to Lissencephaly 6, with microcephaly, MIM# 616212
Mendeliome v0.946 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Mendeliome v0.945 KATNB1 Zornitza Stark Mode of inheritance for gene: KATNB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.944 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Mendeliome v0.944 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.944 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Mendeliome v0.943 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Mendeliome v0.942 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.941 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Mendeliome v0.941 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.940 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Intellectual disability syndromic and non-syndromic v0.1670 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, MIM# 616580
Intellectual disability syndromic and non-syndromic v0.1669 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.107 HNRNPK Sue White Classified gene: HNRNPK as Green List (high evidence)
Hydrops fetalis v0.107 HNRNPK Sue White Gene: hnrnpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.106 HNRNPK Sue White edited their review of gene: HNRNPK: Set current diagnostic: yes
Hydrops fetalis v0.106 HNRNPK Sue White gene: HNRNPK was added
gene: HNRNPK was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
Added comment: case presentation of patient and literature review shows patients can present with hydrops
Sources: Other
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1666 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.13 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Genetic Epilepsy v0.323 ISPD Zornitza Stark Marked gene: ISPD as ready
Genetic Epilepsy v0.323 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.322 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.321 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.320 ISPD Zornitza Stark Classified gene: ISPD as Amber List (moderate evidence)
Genetic Epilepsy v0.320 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 ISPD Zornitza Stark reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome
Genetic Epilepsy v0.318 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome
Genetic Epilepsy v0.317 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Genetic Epilepsy v0.316 HPRT1 Zornitza Stark Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Classified gene: HPRT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.314 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27858372; Phenotypes: Lesch-Nyhan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.314 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Classified gene: HOXA1 as Amber List (moderate evidence)
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.311 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.940 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.940 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.939 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.310 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.309 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v0.308 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Genetic Epilepsy v0.308 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCCS Zornitza Stark Marked gene: HCCS as ready
Genetic Epilepsy v0.307 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.307 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.306 HCCS Zornitza Stark Publications for gene: HCCS were set to
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, MIM#616198 to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.306 HCCS Zornitza Stark Added comment: Comment on mode of inheritance: XLD
Genetic Epilepsy v0.306 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to Other
Genetic Epilepsy v0.305 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.304 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed mode of pathogenicity: Other; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Genetic Epilepsy v0.304 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Genetic Epilepsy v0.304 HCCS Zornitza Stark Classified gene: HCCS as Amber List (moderate evidence)
Genetic Epilepsy v0.304 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.303 HCCS Zornitza Stark reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: Other
Genetic Epilepsy v0.303 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.302 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence)
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Marked gene: GSS as ready
Genetic Epilepsy v0.300 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Genetic Epilepsy v0.300 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
gene: GTPBP2 was marked as current diagnostic
Added comment: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list
Genetic Epilepsy v0.299 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.298 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.7 USB1 Zornitza Stark Marked gene: USB1 as ready
Phagocyte Defects v0.7 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.6 USB1 Zornitza Stark Publications for gene: USB1 were set to
Phagocyte Defects v0.6 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.938 USB1 Zornitza Stark Marked gene: USB1 as ready
Mendeliome v0.938 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Mendeliome v0.938 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Mendeliome v0.937 USB1 Zornitza Stark Publications for gene: USB1 were set to
Mendeliome v0.936 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.105 LCAT Zornitza Stark Marked gene: LCAT as ready
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Mendeliome v0.935 USB1 Ain Roesley reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25044170, 27612988; Phenotypes: Poikiloderma with neutropenia (OMIM #604173); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.105 LCAT Zornitza Stark Classified gene: LCAT as Green List (high evidence)
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Proteinuria v0.104 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900
Review for gene: LCAT was set to GREEN
gene: LCAT was marked as current diagnostic
Added comment: Disorder of lipoprotein metabolism presents with a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Sources: Expert list
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Classified gene: TBX4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.19 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Review for gene: TBX4 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition caused by this gene.
Sources: Expert list
Proteinuria v0.103 GLA Zornitza Stark Marked gene: GLA as ready
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.18 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3 MIM#613674
Proteinuria v0.103 GLA Zornitza Stark Classified gene: GLA as Green List (high evidence)
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Classified gene: SMAD9 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Gene: smad9 has been classified as Green List (High Evidence).
Proteinuria v0.102 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 18033242
Phenotypes for gene: GLA were set to Fairy disease, MIM# 301500
Review for gene: GLA was set to GREEN
Added comment: Glomerular disease and proteinuria well documented manifestations of Fabry.
Sources: Expert list
Pulmonary Arterial Hypertension v0.16 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342
Review for gene: SMAD9 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.14 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344
Review for gene: KCNK3 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.13 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
Pulmonary Arterial Hypertension v0.12 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.10 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2 MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Pulmonary hypertension is a feature of the condition
Sources: Expert list
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Classified gene: CAV1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Added comment: Comment on list classification: Heterozygous variants cause PAH
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.8 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3 MIM#615343
Review for gene: CAV1 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Classified gene: BMPR2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.6 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450
Review for gene: BMPR2 was set to GREEN
Added comment: PAH is the major feature.
Sources: Expert list
Pulmonary Arterial Hypertension v0.5 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR1B was set to Unknown
Phenotypes for gene: BMPR1B were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.4 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ATP13A3 was set to Unknown
Pulmonary Arterial Hypertension v0.3 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Classified gene: ACVRL1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.1 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition.
Sources: Expert list
Pulmonary Arterial Hypertension v0.0 Bryony Thompson Added Panel Pulmonary Arterial Hypertension
Set panel types to: Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Classified gene: CEP164 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.20 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Bardet Biedl syndrome. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15, MIM# 614845
Review for gene: CEP164 was set to AMBER
gene: CEP164 was marked as current diagnostic
Added comment: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list
Mendeliome v0.935 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Mendeliome v0.935 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Mendeliome v0.935 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Mendeliome v0.934 GNB5 Zornitza Stark Publications for gene: GNB5 were set to
Mendeliome v0.933 GNB5 Zornitza Stark Mode of inheritance for gene: GNB5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1664 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.297 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Epilepsy is a reported feature in a number of individuals.
Sources: Expert list
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria, MIM# 220120
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Genetic Epilepsy v0.295 GLYCTK Zornitza Stark Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.294 GLYCTK Zornitza Stark reviewed gene: GLYCTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 3588091, 30637540, 28462797, 20949620, 28190537; Phenotypes: D-glyceric aciduria, MIM# 220120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.13 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.293 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals, all had seizures as part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.292 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599; 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599, 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Genetic Epilepsy v0.289 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20858599, 20818383, 31434271; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FKRP Zornitza Stark Marked gene: FKRP as ready
Genetic Epilepsy v0.288 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.288 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.287 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.286 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.285 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Genetic Epilepsy v0.285 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.284 FKRP Zornitza Stark reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Polymicrogyria, bilateral temporooccipital, MIM#612691 to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Genetic Epilepsy v0.282 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Classified gene: FIG4 as Red List (low evidence)
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.280 FIG4 Zornitza Stark reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: 24598713; Phenotypes: Polymicrogyria, bilateral temporooccipital, MIM#612691; Mode of inheritance: None
Genetic Epilepsy v0.280 FH Zornitza Stark Marked gene: FH as ready
Genetic Epilepsy v0.280 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.280 FH Zornitza Stark Phenotypes for gene: FH were changed from Fumarase deficiency, MIM#606812 to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Phenotypes for gene: FH were changed from to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Publications for gene: FH were set to 20301679; 10805328; 20549362; 15221078; 16151915
Genetic Epilepsy v0.278 FH Zornitza Stark Publications for gene: FH were set to
Genetic Epilepsy v0.278 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301679, 10805328, 20549362, 15221078, 16151915; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.276 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.275 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.274 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
Genetic Epilepsy v0.273 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24630288, 27485793, 23649205, 12794698; Phenotypes: Hypochondroplasia, MIM#146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families, functional data; seizures were a presenting feature.
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Phenotypes for gene: FDFT1 were changed from to Squalene synthase deficiency, MIM# 618156
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Publications for gene: FDFT1 were set to
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FDFT1 Zornitza Stark reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: Squalene synthase deficiency, MIM# 618156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Classified gene: FBXO11 as Green List (high evidence)
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.269 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO11 were set to 30057029; 29796876
Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Review for gene: FBXO11 was set to GREEN
gene: FBXO11 was marked as current diagnostic
Added comment: Seizures are a feature of ~25% of reported individuals with this condition.
Sources: Expert list
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.267 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Genetic Epilepsy v0.266 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence)
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.932 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Mendeliome v0.932 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.932 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Mendeliome v0.931 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Mendeliome v0.930 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1662 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.929 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Mendeliome v0.929 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1661 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.928 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1659 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.263 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.262 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.260 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.259 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
gene: EIF3F was marked as current diagnostic
Added comment: 9 patients with intellectual disability from 7 nonconsang families of European ancestry - all hom for the same mutation in EIF3 (Phe232Val); 6/9 had seizures. This variant is one of the most common protein altering variants in the gene and is present at an allele freq of 0.12% but never hom in Non-Finnish Europeans in gnomAD. Functional studies also done on this variant.
Sources: Expert list
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Green List (high evidence)
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.257 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536
Review for gene: EFTUD2 was set to GREEN
Added comment: Approximately a third of affected individuals are reported as having seizures.
Sources: Expert list
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Mendeliome v0.928 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Mendeliome v0.928 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216
Mendeliome v0.927 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.926 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.925 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Mendeliome v0.925 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.250 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.250 DOLK Zornitza Stark Marked gene: DOLK as ready
Genetic Epilepsy v0.250 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.250 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation type Im, 610768 to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Publications for gene: DOLK were set to
Genetic Epilepsy v0.248 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23890587, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.246 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.245 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Classified gene: DNAJC6 as Amber List (moderate evidence)
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.243 DNAJC6 Zornitza Stark reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.924 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Mendeliome v0.924 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.924 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Mendeliome v0.923 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.922 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Mendeliome v0.921 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Mendeliome v0.921 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Marked gene: MAP4K4 as ready
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Classified gene: MAP4K4 as Red List (low evidence)
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.919 MAP4K4 Zornitza Stark reviewed gene: MAP4K4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.242 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features; seizures are part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1658 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported, EE/DD. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Literature
Mendeliome v0.919 NAGA Zornitza Stark Marked gene: NAGA as ready
Mendeliome v0.919 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Mendeliome v0.919 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)
Mendeliome v0.918 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.917 NAGA Zornitza Stark Publications for gene: NAGA were set to
Mendeliome v0.916 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.916 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.915 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.915 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.914 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 RAB11B Zornitza Stark Deleted their review
Mendeliome v0.913 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29100083; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1656 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 NAGA Ain Roesley reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281; Phenotypes: Kanzaki disease (MIM # 609242), Schindler disease, type I or III (MIM# 609241); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Gene: rab11a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.241 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to RED
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, only one had seizures. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 DHPS Zornitza Stark Marked gene: DHPS as ready
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Marked gene: DHPS as ready
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.913 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.912 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1654 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Genetic Epilepsy v0.240 DHPS Zornitza Stark Marked gene: DHPS as ready
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.240 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.239 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1652 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHDDS were set to 29100083
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype.
Sources: Expert list
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.237 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 29100083; 27343064
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, MIM#613861
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals with mono-allelic variants and a neurodevelopmental phenotype including seizures; one family with compound het variants and CDG phenotype, seizures a prominent feature of the clinical phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1650 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: Multiple affected families, DD/ID is part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.235 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
gene: DEGS1 was marked as current diagnostic
Added comment: Seizures are a prominent feature of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.233 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Classified gene: DEAF1 as Green List (high evidence)
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.231 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DEAF1 were set to 30923367; 26048982; 28940898; 26834045
Phenotypes for gene: DEAF1 were set to Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828
Review for gene: DEAF1 was set to GREEN
gene: DEAF1 was marked as current diagnostic
Added comment: Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions.
Sources: Expert list
Mendeliome v0.911 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Mendeliome v0.911 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.911 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.910 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to 24664471
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.909 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Intellectual disability; autism
Mendeliome v0.908 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Mendeliome v0.908 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Mendeliome v0.907 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1648 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Marked gene: DDOST as ready
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1646 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1646 DDOST Zornitza Stark Publications for gene: DDOST were set to
Intellectual disability syndromic and non-syndromic v0.1645 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.907 DDOST Zornitza Stark Marked gene: DDOST as ready
Mendeliome v0.907 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.907 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.906 DDOST Zornitza Stark Publications for gene: DDOST were set to
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Marked gene: DDOST as ready
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.905 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.11 DDOST Zornitza Stark Publications for gene: DDOST were set to
Mendeliome v0.904 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Mendeliome v0.904 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.903 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.10 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.8 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.11 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Cataract v0.11 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.1 Bryony Thompson Panel name changed from Skeletal Muscle Channelopathies_RMH to Skeletal Muscle Channelopathies
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Cataract v0.10 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Cataract. Sources: Literature
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype.
Sources: Literature
Mendeliome v0.903 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Mendeliome v0.903 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.903 PIK3C2A Zornitza Stark Mode of inheritance for gene: PIK3C2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.902 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Mendeliome v0.902 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.901 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported.
Sources: Expert list
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Marked gene: ADI1 as ready
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Classified gene: ADI1 as Red List (low evidence)
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.7 ADI1 Zornitza Stark reviewed gene: ADI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.900 FGF16 Zornitza Stark Marked gene: FGF16 as ready
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.900 FGF16 Zornitza Stark Classified gene: FGF16 as Green List (high evidence)
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.899 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, MIM# 309630
Review for gene: FGF16 was set to GREEN
gene: FGF16 was marked as current diagnostic
Added comment: Sources: Expert list
Autism v0.43 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.43 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.42 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.898 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.898 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.64 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.64 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.64 GAS1 Zornitza Stark Publications for gene: GAS1 were set to 21842183; 20583177
Callosome v0.63 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Callosome v0.62 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Callosome v0.61 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.60 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.60 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.59 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.897 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Mendeliome v0.897 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.896 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Mendeliome v0.895 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Mendeliome v0.894 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Mendeliome v0.894 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.893 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.12 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.10 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.8 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.893 IMMP2L Zornitza Stark Marked gene: IMMP2L as ready
Mendeliome v0.893 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.893 IMMP2L Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism
Mendeliome v0.892 IMMP2L Zornitza Stark Publications for gene: IMMP2L were set to
Mendeliome v0.891 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.890 IMMP2L Zornitza Stark Classified gene: IMMP2L as Red List (low evidence)
Mendeliome v0.890 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.889 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.889 PTPRR Zornitza Stark Marked gene: PTPRR as ready
Mendeliome v0.889 PTPRR Zornitza Stark Gene: ptprr has been classified as Red List (Low Evidence).
Mendeliome v0.889 STAT4 Zornitza Stark Marked gene: STAT4 as ready
Mendeliome v0.889 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.229 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Review for gene: DLL1 was set to GREEN
Added comment: Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.227 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Mendeliome v0.889 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Mendeliome v0.889 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Mendeliome v0.888 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1641 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Classified gene: CUL4B as Green List (high evidence)
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.225 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 22182342; 17236139
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Review for gene: CUL4B was set to GREEN
gene: CUL4B was marked as current diagnostic
Added comment: ~30% of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence)
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.223 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, epilepsy is part of the phenotype
Sources: Literature
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Classified gene: CREBBP as Green List (high evidence)
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.221 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREBBP were set to 29460469
Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332
Review for gene: CREBBP was set to GREEN
gene: CREBBP was marked as current diagnostic
Added comment: Exon 30 and 31 CREBBP variants cause a syndrome distinct from Rubinstein-Taybi and according to this case series 21% have epilepsy
Sources: Expert list
Genetic Epilepsy v0.220 COX15 Zornitza Stark Marked gene: COX15 as ready
Genetic Epilepsy v0.220 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.220 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.219 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.218 COX15 Zornitza Stark Publications for gene: COX15 were set to
Genetic Epilepsy v0.217 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.216 COX15 Zornitza Stark Classified gene: COX15 as Amber List (moderate evidence)
Genetic Epilepsy v0.216 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 12474143, 15863660, 15235026,; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MIM#615119 and Leigh syndrome #256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.215 COX10 Zornitza Stark Marked gene: COX10 as ready
Genetic Epilepsy v0.215 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.214 COX10 Zornitza Stark Publications for gene: COX10 were set to
Genetic Epilepsy v0.213 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.212 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Genetic Epilepsy v0.212 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.211 COX10 Zornitza Stark reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.211 COQ6 Zornitza Stark Publications for gene: COQ6 were set to 21540551
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Publications for gene: COQ6 were set to
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Classified gene: COQ6 as Amber List (moderate evidence)
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.207 COQ6 Zornitza Stark reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.207 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from Congenital disorder of glycosylation, type IIh, 611182 to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.206 COG8 Zornitza Stark Marked gene: COG8 as ready
Genetic Epilepsy v0.206 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.206 COG8 Zornitza Stark Publications for gene: COG8 were set to 28619360; 17220172; 17331980
Genetic Epilepsy v0.206 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.205 COG8 Zornitza Stark Publications for gene: COG8 were set to
Genetic Epilepsy v0.205 COG8 Zornitza Stark Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.204 COG8 Zornitza Stark Classified gene: COG8 as Amber List (moderate evidence)
Genetic Epilepsy v0.204 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.203 COG8 Zornitza Stark reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: None; Publications: 28619360, 17220172, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.887 HOXB6 Zornitza Stark Marked gene: HOXB6 as ready
Mendeliome v0.887 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Green List (High Evidence).
Mendeliome v0.887 HOXB6 Zornitza Stark Phenotypes for gene: HOXB6 were changed from to Hypospadias
Mendeliome v0.886 HOXB6 Zornitza Stark Publications for gene: HOXB6 were set to
Mendeliome v0.885 HOXB6 Zornitza Stark Mode of inheritance for gene: HOXB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.884 LIFR Zornitza Stark Marked gene: LIFR as ready
Mendeliome v0.884 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Mendeliome v0.884 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Mendeliome v0.883 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.882 LIFR Zornitza Stark Publications for gene: LIFR were set to
Mendeliome v0.881 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.203 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Coenzyme Q10 deficiency, primary, 6, MIM#614650 to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Marked gene: COG6 as ready
Genetic Epilepsy v0.202 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.202 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.201 COG6 Zornitza Stark Classified gene: COG6 as Amber List (moderate evidence)
Genetic Epilepsy v0.201 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG6 Zornitza Stark reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.200 COG4 Zornitza Stark Marked gene: COG4 as ready
Genetic Epilepsy v0.200 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from Congenital disorder of glycosylation, type IIj, MIM#613489 to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.198 COG4 Zornitza Stark Classified gene: COG4 as Amber List (moderate evidence)
Genetic Epilepsy v0.198 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.197 COG4 Zornitza Stark reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIj, MIM#613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.197 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 27479907; 27616479
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM# 617159
Genetic Epilepsy v0.195 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Classified gene: CHD4 as Red List (low evidence)
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.193 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: RED; Mode of pathogenicity: None; Publications: 27479907, 27616479; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Genetic Epilepsy v0.191 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1639 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.880 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Mendeliome v0.880 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Mendeliome v0.880 CACNA1B Zornitza Stark Phenotypes for gene: CACNA1B were changed from to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Mendeliome v0.879 CACNA1B Zornitza Stark Publications for gene: CACNA1B were set to
Mendeliome v0.878 CACNA1B Zornitza Stark Mode of inheritance for gene: CACNA1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.877 CACNA1B Zornitza Stark reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982612; Phenotypes: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.189 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
gene: CACNA1B was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.187 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 618012; Cutis laxa, type IID, 617403
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Sources: Expert list
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Green List (high evidence)
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.185 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 18157129; 22773132
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, type IIA,219200
Review for gene: ATP6V0A2 was set to GREEN
gene: ATP6V0A2 was marked as current diagnostic
Added comment: AR cutis laxa type IIa (ARCLA2A) is a multi-system disorder with features including cutis laxa, abnormal growth, dev delay, and skeletal abnormalities. Cobblestone-like brain dysgenesis manifests as developmental delay and an epileptic syndrome: Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2.
Sources: Expert list
Callosome v0.59 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.59 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.58 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.876 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1637 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.875 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1636 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Mendeliome v0.874 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to
Mendeliome v0.873 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from to Intellectual disability; autism; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1634 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703
Phenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features
Review for gene: NTNG2 was set to GREEN
Added comment: 16 individuals from 7 unrelated families.
Sources: Literature
Mendeliome v0.872 NTNG2 Zornitza Stark Mode of inheritance for gene: NTNG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 NTNG2 Zornitza Stark reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703; Phenotypes: Intellectual disability, autism, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.871 RPL13 Zornitza Stark Classified gene: RPL13 as Green List (high evidence)
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.870 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Review for gene: RPL13 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants.
Sources: Literature
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.7 RPL13 Zornitza Stark reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.869 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Mendeliome v0.869 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.869 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.868 FOXJ1 Zornitza Stark Publications for gene: FOXJ1 were set to
Mendeliome v0.867 FOXJ1 Zornitza Stark Mode of inheritance for gene: FOXJ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.866 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.13 FOXJ1 Zornitza Stark gene: FOXJ1 was added
gene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Review for gene: FOXJ1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1632 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Microcephaly v0.74 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Microcephaly v0.74 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Microcephaly v0.74 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Microcephaly v0.74 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Microcephaly v0.73 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.866 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.866 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.865 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.11 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.864 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Mendeliome v0.864 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Mendeliome v0.864 RRAS2 Zornitza Stark Phenotypes for gene: RRAS2 were changed from to Noonan syndrome 12, OMIM #618624
Mendeliome v0.863 RRAS2 Zornitza Stark Publications for gene: RRAS2 were set to
Mendeliome v0.862 RRAS2 Zornitza Stark Mode of inheritance for gene: RRAS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.861 RRAS2 Zornitza Stark reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31130282; Phenotypes: Noonan syndrome 12, OMIM #618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.39 SOS1 Bryony Thompson gene: SOS1 was added
gene: SOS1 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 29907801
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Review for gene: SOS1 was set to RED
Added comment: Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Marked gene: TP73 as ready
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Classified gene: TP73 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1630 TP73 Zornitza Stark gene: TP73 was added
gene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284
Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Classified gene: PTPN14 as Green List (high evidence)
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.37 PTPN14 Bryony Thompson gene: PTPN14 was added
gene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611
Review for gene: PTPN14 was set to GREEN
Added comment: Lymphedema is a prominent feature of the condition.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Classified gene: SMG8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1628 SMG8 Zornitza Stark gene: SMG8 was added
gene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Marked gene: IQSEC3 as ready
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Classified gene: PTPN11 as Red List (low evidence)
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Gene: ptpn11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Classified gene: IQSEC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.35 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 27193571; 24939587; 29907801
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma
Review for gene: PTPN11 was set to GREEN
Added comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1626 IQSEC3 Zornitza Stark gene: IQSEC3 was added
gene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Marked gene: ICE1 as ready
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Classified gene: ICE1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1624 ICE1 Zornitza Stark gene: ICE1 was added
gene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes.
Sources: Literature
Vascular Malformations_Germline v0.34 PIK3R2 Bryony Thompson gene: PIK3R2 was added
gene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 22729224; 28502725
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Review for gene: PIK3R2 was set to RED
Added comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided.
Sources: Expert list
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson Tag somatic tag was added to gene: PIK3R1.
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson gene: PIK3R1 was added
gene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to Other
Publications for gene: PIK3R1 were set to 29174369
Phenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation
Review for gene: PIK3R1 was set to RED
Added comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature.
Sources: Expert list
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Classified gene: PIK3CA as Green List (high evidence)
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported.
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson Tag somatic tag was added to gene: PIK3CA.
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson reviewed gene: PIK3CA: 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: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Classified gene: NRAS as Red List (low evidence)
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Gene: nras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson Tag somatic tag was added to gene: NRAS.
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson gene: NRAS was added
gene: NRAS was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: NRAS was set to Other
Publications for gene: NRAS were set to 30542204; 29461977
Phenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Noonan syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Classified gene: MTOR as Red List (low evidence)
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Added comment: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Gene: mtor has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Added comment: Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Germline v0.27 MTOR Bryony Thompson gene: MTOR was added
gene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MTOR.
Mode of inheritance for gene: MTOR was set to Other
Publications for gene: MTOR were set to 28892148; 29174369
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341
Review for gene: MTOR was set to AMBER
Added comment: Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself.
Sources: Expert list
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Classified gene: MAP3K3 as Red List (low evidence)
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Added comment: Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel.
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Gene: map3k3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.25 MAP3K3 Bryony Thompson gene: MAP3K3 was added
gene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP3K3.
Mode of inheritance for gene: MAP3K3 was set to Other
Publications for gene: MAP3K3 were set to 10700190; 25728774
Phenotypes for gene: MAP3K3 were set to Verrucous venous malformation
Review for gene: MAP3K3 was set to GREEN
Added comment: Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function.
Sources: Expert list
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Classified gene: MAP2K1 as Red List (low evidence)
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel.
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Gene: map2k1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.23 MAP2K1 Bryony Thompson gene: MAP2K1 was added
gene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP2K1.
Mode of inheritance for gene: MAP2K1 was set to Other
Publications for gene: MAP2K1 were set to 31486960; 29461977; 28190454
Phenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MAP2K1 was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Classified gene: KRAS as Red List (low evidence)
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene, thus it is not suitable to include on a germline testing panel.
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Gene: kras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.21 KRAS Bryony Thompson gene: KRAS was added
gene: KRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: KRAS.
Mode of inheritance for gene: KRAS was set to Other
Publications for gene: KRAS were set to 30677207; 30544177; 31160609
Phenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation
Mode of pathogenicity for gene: KRAS was set to Other
Review for gene: KRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations, particularly CNS AVMs. Germline mutations cause RASopathies.
Sources: Expert list
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Classified gene: KDR as Amber List (moderate evidence)
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Added comment: Comment on list classification: There is currently insufficient reports in patients to determine if this gene causes an inherited vascular malformation (haemangioma).
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.19 KDR Bryony Thompson Tag somatic tag was added to gene: KDR.
Vascular Malformations_Germline v0.19 KDR Bryony Thompson gene: KDR was added
gene: KDR was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDR were set to 30475086; 7596435; 24704994; 18931684
Phenotypes for gene: KDR were set to {Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma
Review for gene: KDR was set to AMBER
Added comment: The variant identified in PMID: 18931684 (Cys482Arg) in the germline of two unrelated hemangioma cases is too common in gnomAD to be associated with rare dominant disease, but may be a susceptibility loci. Another germline missense variant has been identified in a case of cystic hygroma (PMID: 30475086). Flk1-/- (Kdr-/-) mice are embryonic lethal and demonstrate an early defect in the development of hematopoietic and endothelial cells. Organized blood vessels could not be observed.
Sources: Expert list
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Classified gene: HRAS as Red List (low evidence)
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Gene: hras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.17 HRAS Bryony Thompson gene: HRAS was added
gene: HRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: HRAS.
Mode of inheritance for gene: HRAS was set to Other
Publications for gene: HRAS were set to 31637524; 31160609; 30208313
Phenotypes for gene: HRAS were set to Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes
Mode of pathogenicity for gene: HRAS was set to Other
Review for gene: HRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Costello syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.16 Bryony Thompson Panel name changed from Vascular Malformations_RMH to Inherited Vascular Malformations
Panel types changed to Royal Melbourne Hospital
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Classified gene: GNA14 as Red List (low evidence)
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. This gene is not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.14 GNA14 Bryony Thompson gene: GNA14 was added
gene: GNA14 was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNA14.
Mode of inheritance for gene: GNA14 was set to Other
Publications for gene: GNA14 were set to 31423605; 31707589; 27476652
Phenotypes for gene: GNA14 were set to Tufted angioma; Anastomosing hemangioma; vascular tumours
Mode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNA14 was set to GREEN
Added comment: Somatic activating mutations cause sporadic and congenital vascular tumours.
Sources: Expert list
Vascular Malformations_Germline v0.13 CDKN1C Bryony Thompson gene: CDKN1C was added
gene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Review for gene: CDKN1C was set to RED
Added comment: It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene.
Sources: Expert list
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Classified gene: BRAF as Red List (low evidence)
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Gene: braf has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Classified gene: GNA11 as Red List (low evidence)
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Gene: gna11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Classified gene: GNAQ as Red List (low evidence)
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Gene: gnaq has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Classified gene: AKT1 as Red List (low evidence)
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Gene: akt1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Classified gene: BRAF as Amber List (moderate evidence)
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Gene: braf has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.7 BRAF Bryony Thompson gene: BRAF was added
gene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: BRAF.
Mode of inheritance for gene: BRAF was set to Other
Publications for gene: BRAF were set to 29316280; 29461977; 30544177
Phenotypes for gene: BRAF were set to Sporadic vascular malformations
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: BRAF was set to GREEN
Added comment: Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations.
Sources: Expert list
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Deleted their comment
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Tag somatic tag was added to gene: AKT1.
Vascular Malformations_Germline v0.6 GNA11 Bryony Thompson Tag somatic tag was added to gene: GNA11.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Classified gene: GNAQ as Amber List (moderate evidence)
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Added comment: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Gene: gnaq has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.5 GNAQ Bryony Thompson gene: GNAQ was added
gene: GNAQ was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNAQ.
Mode of inheritance for gene: GNAQ was set to Other
Publications for gene: GNAQ were set to 30920161
Phenotypes for gene: GNAQ were set to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Review for gene: GNAQ was set to GREEN
Added comment: The somatic activating mutation Arg183Gln cause conditions with vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Classified gene: AKT1 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Added comment: Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Gene: akt1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Classified gene: GNA11 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Added comment: Comment on list classification: Probably not suitable for a germline testing panel
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Gene: gna11 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.2 GNA11 Bryony Thompson reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161, 30677207; Phenotypes: Phacomatosis pigmentovascularis, somatic; Mode of inheritance: Other
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Classified gene: AKT1 as Green List (high evidence)
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Added comment: Comment on list classification: This gene is green for somatic variants.
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Gene: akt1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.1 AKT1 Bryony Thompson gene: AKT1 was added
gene: AKT1 was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: AKT1 was set to Other
Publications for gene: AKT1 were set to 23246288
Phenotypes for gene: AKT1 were set to Proteus syndrome, somatic 176920; Cowden syndrome 6 615109
Mode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: AKT1 was set to GREEN
Added comment: Activating mutations in this gene cause disease. Somatic activating variants cause Proteus syndrome, a disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Activating germline AKT1 variants have been reported in 2 cowden syndrome cases, that were negative for PTEN. Vascular malformations were not reported as part of the phenotype for these two cases.
Sources: Expert list
Rasopathy v0.4 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.4 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Marked gene: RRAS2 as ready
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.2 RRAS2 Alison Yeung gene: RRAS2 was added
gene: RRAS2 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to PMID: 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624
Review for gene: RRAS2 was set to GREEN
Added comment: Six unrelated families reported
Sources: Literature
Mendeliome v0.861 TP73 Alison Yeung Marked gene: TP73 as ready
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.861 TP73 Alison Yeung Classified gene: TP73 as Amber List (moderate evidence)
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.860 TP73 Alison Yeung gene: TP73 was added
gene: TP73 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to PMID: 31130284
Phenotypes for gene: TP73 were set to Cortical malformation; Lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.859 SMG8 Alison Yeung Marked gene: SMG8 as ready
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.859 SMG8 Alison Yeung Classified gene: SMG8 as Amber List (moderate evidence)
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.858 SMG8 Alison Yeung gene: SMG8 was added
gene: SMG8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to PMID: 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.857 IQSEC3 Alison Yeung Marked gene: IQSEC3 as ready
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.857 IQSEC3 Alison Yeung Classified gene: IQSEC3 as Amber List (moderate evidence)
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.856 IQSEC3 Alison Yeung gene: IQSEC3 was added
gene: IQSEC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to PMID: 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.855 ICE1 Alison Yeung Marked gene: ICE1 as ready
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.855 ICE1 Alison Yeung Classified gene: ICE1 as Amber List (moderate evidence)
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.854 ICE1 Alison Yeung gene: ICE1 was added
gene: ICE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to PMID: 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.853 EIF2A Alison Yeung Marked gene: EIF2A as ready
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.853 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.852 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: reported in two unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Marked gene: EIF2A as ready
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1621 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: two unrelated families reported, no functional data
Sources: Literature
Leukodystrophy v0.49 UFM1 Bryony Thompson Marked gene: UFM1 as ready
Leukodystrophy v0.49 UFM1 Bryony Thompson Gene: ufm1 has been classified as Green List (High Evidence).
Leukodystrophy v0.49 UFM1 Bryony Thompson Classified gene: UFM1 as Green List (high evidence)
Leukodystrophy v0.49 UFM1 Bryony Thompson Gene: ufm1 has been classified as Green List (High Evidence).
Leukodystrophy v0.48 UFM1 Bryony Thompson gene: UFM1 was added
gene: UFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 617899
Added comment: Homozygous missense segregates in 2 consanguineous Sudanese families, and a Roma founder muation found to cause hypomyelinating leukodystrophy.
Sources: Expert list
Leukodystrophy v0.47 TMEM63A Bryony Thompson Classified gene: TMEM63A as Green List (high evidence)
Leukodystrophy v0.47 TMEM63A Bryony Thompson Gene: tmem63a has been classified as Green List (High Evidence).
Leukodystrophy v0.46 TMEM63A Bryony Thompson gene: TMEM63A was added
gene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688
Review for gene: TMEM63A was set to GREEN
Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants.
Sources: Expert list
Leukodystrophy v0.45 STX11 Bryony Thompson gene: STX11 was added
gene: STX11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552
Review for gene: STX11 was set to RED
Added comment: It is unclear whether leukodystrophy is a feature of the condition. There are no reports of the gene associated with white matter changes.
Sources: Expert list
Leukodystrophy v0.44 SPART Bryony Thompson Classified gene: SPART as Green List (high evidence)
Leukodystrophy v0.44 SPART Bryony Thompson Gene: spart has been classified as Green List (High Evidence).
Leukodystrophy v0.43 SPART Bryony Thompson gene: SPART was added
gene: SPART was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to 28875386; 15372254
Phenotypes for gene: SPART were set to Troyer syndrome 275900
Review for gene: SPART was set to GREEN
Added comment: White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described.
Sources: Expert list
Leukodystrophy v0.42 SLC25A1 Bryony Thompson gene: SLC25A1 was added
gene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 29226520
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Review for gene: SLC25A1 was set to RED
Added comment: Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood.
Sources: Expert list
Leukodystrophy v0.41 SLC13A5 Bryony Thompson Classified gene: SLC13A5 as Amber List (moderate evidence)
Leukodystrophy v0.41 SLC13A5 Bryony Thompson Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.40 SLC13A5 Bryony Thompson gene: SLC13A5 was added
gene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27913086
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months.
Sources: Expert list
Leukodystrophy v0.39 RAB11B Bryony Thompson Classified gene: RAB11B as Green List (high evidence)
Leukodystrophy v0.39 RAB11B Bryony Thompson Gene: rab11b has been classified as Green List (High Evidence).
Leukodystrophy v0.38 RAB11B Bryony Thompson gene: RAB11B was added
gene: RAB11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB11B were set to 29106825
Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Review for gene: RAB11B was set to GREEN
Added comment: 5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities.
Sources: Expert list
Leukodystrophy v0.37 PSAT1 Bryony Thompson gene: PSAT1 was added
gene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992
Review for gene: PSAT1 was set to RED
Added comment: Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency.
Sources: Expert list
Leukodystrophy v0.36 PRF1 Bryony Thompson gene: PRF1 was added
gene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 23443029; 21959744
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553
Review for gene: PRF1 was set to RED
Added comment: Leukodystrophy does not appear to be a prominent feature of the condition
Sources: Expert list
Leukodystrophy v0.35 PPT1 Bryony Thompson Classified gene: PPT1 as Amber List (moderate evidence)
Leukodystrophy v0.35 PPT1 Bryony Thompson Gene: ppt1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.34 PPT1 Bryony Thompson gene: PPT1 was added
gene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPT1 were set to 5706364; 8576553
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Review for gene: PPT1 was set to AMBER
Added comment: White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene.
Sources: Expert list
Leukodystrophy v0.33 POLR1A Bryony Thompson gene: POLR1A was added
gene: POLR1A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1A were set to 28051070
Phenotypes for gene: POLR1A were set to ataxia; psychomotor retardation; cerebellar and cerebral atrophy; leukodystrophy
Review for gene: POLR1A was set to RED
Added comment: 2 brothers in a single consanguineous family with neurological disease including leukodystrophy with a homozygous variant. Reduced protein expression in patient cells.
Sources: Expert list
Leukodystrophy v0.32 PLEKHG2 Bryony Thompson Classified gene: PLEKHG2 as Amber List (moderate evidence)
Leukodystrophy v0.32 PLEKHG2 Bryony Thompson Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.31 PLEKHG2 Bryony Thompson gene: PLEKHG2 was added
gene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763
Review for gene: PLEKHG2 was set to AMBER
Added comment: 5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted.
Sources: Expert list
Leukodystrophy v0.30 PHGDH Bryony Thompson gene: PHGDH was added
gene: PHGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Review for gene: PHGDH was set to RED
Added comment: No clear link to leukodystophy for this gene.
Sources: Expert list
Leukodystrophy v0.29 OCRL Bryony Thompson reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: 31922591, 19168822, 11315202; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.29 OCLN Bryony Thompson changed review comment from: Link to leukodystrophy not clear.
Sources: Expert list; to: No clear link to leukodystrophy.
Sources: Expert list
Leukodystrophy v0.29 OCLN Bryony Thompson gene: OCLN was added
gene: OCLN was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Pseudo-TORCH syndrome 1 251290
Review for gene: OCLN was set to RED
Added comment: Link to leukodystrophy not clear.
Sources: Expert list
Leukodystrophy v0.28 NDUFA2 Bryony Thompson Classified gene: NDUFA2 as Amber List (moderate evidence)
Leukodystrophy v0.28 NDUFA2 Bryony Thompson Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.27 NDUFA2 Bryony Thompson gene: NDUFA2 was added
gene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy
Review for gene: NDUFA2 was set to AMBER
Added comment: Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency.
Sources: Expert list
Leukodystrophy v0.26 MRPS16 Bryony Thompson gene: MRPS16 was added
gene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498
Review for gene: MRPS16 was set to RED
Added comment: No clear link to leukodystrophy reported.
Sources: Expert list
Leukodystrophy v0.25 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050
Review for gene: MPLKIP was set to RED
Added comment: White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease.
Sources: Expert list
Leukodystrophy v0.24 HMBS Bryony Thompson Classified gene: HMBS as Amber List (moderate evidence)
Leukodystrophy v0.24 HMBS Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.23 HMBS Bryony Thompson reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.23 HMBS Bryony Thompson Deleted their review
Leukodystrophy v0.23 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMBS were set to 27558376
Phenotypes for gene: HMBS were set to Acute intermittent porphyria-related leukoencephalopathy
Review for gene: HMBS was set to RED
Added comment: Compound heterozygous variants segregate in three affected individuals in a single family.
Sources: Expert list
Leukodystrophy v0.22 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395
Review for gene: GTF2H5 was set to RED
Added comment: White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition.
Sources: Expert list
Leukodystrophy v0.21 GFPT1 Bryony Thompson Classified gene: GFPT1 as Amber List (moderate evidence)
Leukodystrophy v0.21 GFPT1 Bryony Thompson Gene: gfpt1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.20 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 30635494
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy
Review for gene: GFPT1 was set to AMBER
Added comment: 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green.
Sources: Expert list
Leukodystrophy v0.19 FIG4 Bryony Thompson Classified gene: FIG4 as Green List (high evidence)
Leukodystrophy v0.19 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Leukodystrophy v0.18 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 30740813; 29688489
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy
Review for gene: FIG4 was set to GREEN
Added comment: Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype.
Sources: Expert list
Leukodystrophy v0.17 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390
Review for gene: ERCC3 was set to RED
Added comment: White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3.
Sources: Expert list
Leukodystrophy v0.16 ERCC2 Bryony Thompson Classified gene: ERCC2 as Amber List (moderate evidence)
Leukodystrophy v0.16 ERCC2 Bryony Thompson Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.15 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 29451896
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675
Review for gene: ERCC2 was set to AMBER
Added comment: White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case.
Sources: Expert list
Leukodystrophy v0.14 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Leukodystrophy v0.14 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Leukodystrophy v0.14 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Leukodystrophy v0.14 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Leukodystrophy v0.13 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18 618404
Review for gene: DEGS1 was set to GREEN
Added comment: Hypomyelinating leukodystorphy is the prominent feature of this condition.
Sources: Expert list
Leukodystrophy v0.12 CYP2U1 Bryony Thompson Classified gene: CYP2U1 as Amber List (moderate evidence)
Leukodystrophy v0.12 CYP2U1 Bryony Thompson Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.11 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 27292318
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive 615030
Review for gene: CYP2U1 was set to AMBER
Added comment: White matter lesions have been reported in the condition, but are rare and not a prominent feature.
Sources: Expert list
Leukodystrophy v0.10 COQ9 Bryony Thompson gene: COQ9 was added
gene: COQ9 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 614654
Review for gene: COQ9 was set to RED
Added comment: White matter changes are not reported as a prominent feature of the condition.
Sources: Expert list
Leukodystrophy v0.9 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 612016
Review for gene: COQ8A was set to RED
Added comment: White matter changes don't appear to be a prominent feature of the condition.
Sources: Expert list
Leukodystrophy v0.8 BCAP31 Bryony Thompson Classified gene: BCAP31 as Green List (high evidence)
Leukodystrophy v0.8 BCAP31 Bryony Thompson Gene: bcap31 has been classified as Green List (High Evidence).
Leukodystrophy v0.7 BCAP31 Bryony Thompson gene: BCAP31 was added
gene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475
Review for gene: BCAP31 was set to GREEN
Added comment: White matter changes are a feature of the condition.
Sources: Expert list
Leukodystrophy v0.6 ATPAF2 Bryony Thompson gene: ATPAF2 was added
gene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATPAF2 were set to 14757859
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Review for gene: ATPAF2 was set to RED
Added comment: A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted.
Sources: Expert list
Leukodystrophy v0.5 ATP7A Bryony Thompson Marked gene: ATP7A as ready
Leukodystrophy v0.5 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Leukodystrophy v0.5 ATP7A Bryony Thompson Classified gene: ATP7A as Green List (high evidence)
Leukodystrophy v0.5 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Leukodystrophy v0.4 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7A were set to 26937406; 21924848; 29789304
Phenotypes for gene: ATP7A were set to Menkes disease, 309400
Review for gene: ATP7A was set to GREEN
Added comment: One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination.
Sources: Expert list
Leukodystrophy v0.3 AIMP2 Bryony Thompson gene: AIMP2 was added
gene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted.
Sources: Literature
Ataxia v0.47 ACBD5 Bryony Thompson changed review comment from: 2 unrelated families and no functional evidence
Sources: Expert list; to: 2 unrelated families and no functional evidence linking the gene to an ataxia phenotype
Sources: Expert list
Leukodystrophy v0.2 ACBD5 Bryony Thompson Classified gene: ACBD5 as Green List (high evidence)
Leukodystrophy v0.2 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Green List (High Evidence).
Leukodystrophy v0.1 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 23105016; 27799409
Phenotypes for gene: ACBD5 were set to Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy
Review for gene: ACBD5 was set to GREEN
Added comment: One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies.
Sources: Expert list
Mendeliome v0.850 Sebastian Lunke removed gene:TRIM28 from the panel
Mendeliome v0.849 Sebastian Lunke removed gene:PRKN from the panel
Mendeliome v0.848 Sebastian Lunke removed gene:DSC2 from the panel
Mendeliome v0.846 Sebastian Lunke removed gene:CHEK2 from the panel
Renal Cystic Disease_SuperPanel v0.115 Zornitza Stark Panel status changed from public to promoted
Immunological disorders_SuperPanel v0.125 Zornitza Stark Panel status changed from public to promoted
Cardiomyopathy_Adult_SuperPanel v0.20 Zornitza Stark Panel status changed from public to promoted
Arrhythmia_SuperPanel v0.17 Zornitza Stark Panel status changed from public to promoted
Mendeliome v0.845 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.845 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.844 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Three unrelated individuals reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1619 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Reported in three unrelated individuals
Sources: Literature
Autism v0.42 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.42 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Mendeliome v0.843 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.842 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Mendeliome v0.841 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.840 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Mendeliome v0.840 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.41 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.839 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.40 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Autism v0.39 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.38 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.839 ADCY8 Zornitza Stark Marked gene: ADCY8 as ready
Mendeliome v0.839 ADCY8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Intellectual disability; Autism; Epilepsy
Mendeliome v0.839 ADCY8 Zornitza Stark Classified gene: ADCY8 as Red List (low evidence)
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.7 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Three unrelated individuals reported. Functional studies in mouse
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.6 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Mendeliome v0.838 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.838 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.837 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Reported in 3 unrelated individuals
Sources: Literature
Mendeliome v0.836 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.836 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.835 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1614 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.5 Bryony Thompson Panel name changed from Hereditary Haemorrhagic Telangiectasia_RMH to Hereditary Haemorrhagic Telangiectasia
Panel types changed to Royal Melbourne Hospital
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Marked gene: ACAN as ready
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.833 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 612813
Review for gene: ACAN was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.832 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.832 NKX2-2 Zornitza Stark Classified gene: NKX2-2 as Green List (high evidence)
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.831 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943; 9584121
Phenotypes for gene: NKX2-2 were set to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Review for gene: NKX2-2 was set to GREEN
Added comment: Sources: Expert list
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Added comment: Comment when marking as ready: Mouse model also supports gene-disease association.
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.2 NKX2-2 Zornitza Stark Phenotypes for gene: NKX2-2 were changed from to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Monogenic Diabetes v0.1 NKX2-2 Zornitza Stark reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24411943; Phenotypes: Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.1 Zornitza Stark Panel name changed from Monogenic diabetes to Monogenic Diabetes
Panel types changed to Rare Disease; Victorian Clinical Genetics Services
Monogenic Diabetes v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 12913070; 15317753; 20034068; 16297189; 18435794
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Monogenic Diabetes v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive
Monogenic Diabetes v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB20 were set to 20644156; 25017102
Phenotypes for gene: ZBTB20 were set to Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050
Monogenic Diabetes v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27185633; 27217304
Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41,116400; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy
Monogenic Diabetes v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 26297882; 24204302
Phenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic Diabetes v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
Monogenic Diabetes v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 25038750; 27167055
Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 23534974
Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Monogenic Diabetes v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to PMID: 23456528; 22831748; 22660720
Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome
Monogenic Diabetes v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 19336477
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)
Monogenic Diabetes v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 26549656; 26839896
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Monogenic Diabetes v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY
Monogenic Diabetes v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Monogenic Diabetes v0.0 PPP1R15B Zornitza Stark gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPP1R15B were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Monogenic Diabetes v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic; FPLD3; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; [Obesity, resistance to]; Lipodystrophy, familial partial, type 3, 604367; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Carotid intimal medial thickness 1, 609338
Monogenic Diabetes v0.0 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 PLIN1 Zornitza Stark gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 23810378
Phenotypes for gene: PIK3R1 were set to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome
Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments
Monogenic Diabetes v0.0 PDX1 Zornitza Stark gene: PDX1 was added
gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
Monogenic Diabetes v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24204001; 24848070
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic Diabetes v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia 106210; diabetes
Monogenic Diabetes v0.0 PAX4 Zornitza Stark gene: PAX4 was added
gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.0 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 25650326; 26288179
Monogenic Diabetes v0.0 NEUROD1 Zornitza Stark gene: NEUROD1 was added
gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242
Phenotypes for gene: NEUROD1 were set to MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis
Monogenic Diabetes v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 24411943; 23562494; 26534984
Monogenic Diabetes v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
Monogenic Diabetes v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24002959; 26775134
Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes; FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660
Monogenic Diabetes v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LIPC was set to Unknown
Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025
Monogenic Diabetes v0.0 KLF11 Zornitza Stark gene: KLF11 was added
gene: KLF11 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant)
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190
Monogenic Diabetes v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus
Monogenic Diabetes v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green,NHS GMS
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; neonatal diabetes
Monogenic Diabetes v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 22991235; 24138066; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome
Monogenic Diabetes v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 28242437
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic Diabetes v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700
Monogenic Diabetes v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; Maturity-Onset Diabetes Of The Young; MODY, type III, 600496; Maturity-onset diabetes of the young (MODY); MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, insulin-dependent}, 222100; Maturity Onset Diabetes of the Young; MODY3
Monogenic Diabetes v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390
Monogenic Diabetes v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300
Monogenic Diabetes v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Monogenic Diabetes v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Removed,UKGTN,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Monogenic Diabetes v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851
Monogenic Diabetes v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25706805; 25708516; 25356219; 22158542; 27098067; 23635550; 22806356; 24310933; 23223019; 22962692; 26210631; 24433315; 23639568
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Monogenic Diabetes v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 27810688; 24696446; 20854389
Monogenic Diabetes v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC2 was set to Unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Monogenic Diabetes v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 28055140
Phenotypes for gene: EIF2S3 were set to microcephaly; MEHMO syndrome (X-linked NDM and microcephaly),300148; diabetes; epilepsy; hypogonadism; intellectual disability; hypogenitalism; central obesity
Monogenic Diabetes v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 19837917
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Monogenic Diabetes v0.0 DYRK1B Zornitza Stark gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1B were set to Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); Abdominal obesity-metabolic syndrome 3, 615812
Monogenic Diabetes v0.0 DNAJC3 Zornitza Stark gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC3 were set to Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Monogenic Diabetes v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber,Other
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; OMIM:612186; ORPHA90636
Monogenic Diabetes v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080
Monogenic Diabetes v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia
Monogenic Diabetes v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Monogenic Diabetes v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 25056293; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2604928
Monogenic Diabetes v0.0 CIDEC Zornitza Stark gene: CIDEC was added
gene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIDEC were set to 20049731
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5
Monogenic Diabetes v0.0 CEL Zornitza Stark gene: CEL was added
gene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620
Phenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812
Monogenic Diabetes v0.0 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CAV1 was set to Unknown
Publications for gene: CAV1 were set to 18211975
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Monogenic Diabetes v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 11479539
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy
Monogenic Diabetes v0.0 BLK Zornitza Stark gene: BLK was added
gene: BLK was added to Monogenic diabetes. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 APPL1 Zornitza Stark gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes
Monogenic Diabetes v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Monogenic Diabetes v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17576055; 15166380; 17327441
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic Diabetes v0.0 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.
Phenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus
Monogenic Diabetes v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 Zornitza Stark Added panel Monogenic diabetes
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Marked gene: GAS2L2 as ready
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals reported, downgrade to Amber.
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)
Ciliary Dyskinesia v0.11 GAS2L2 Zornitza Stark Publications for gene: GAS2L2 were set to
Ciliary Dyskinesia v0.10 GAS2L2 Zornitza Stark Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.15 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: 13 unrelated individuals reported, with de novo truncating or missense variants (one recurrent). Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants.
Sources: Literature
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Polymicrogyria and Schizencephaly v0.13 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Polymicrogyria and Schizencephaly v0.12 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.8 GAS2L2 Ain Roesley reviewed gene: GAS2L2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30665704; Phenotypes: ?Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Marked gene: POLA1 as ready
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Classified gene: POLA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1612 POLA1 Alison Yeung gene: POLA1 was added
gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLA1 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: POLA1 were set to PMID: 31006512
Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: Five unrelated families reported
Sources: Literature
Mendeliome v0.830 GPC4 Alison Yeung reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30982611; Phenotypes: Keipert syndrome OMIM# 301026; 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
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Marked gene: GPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1609 GPC4 Alison Yeung gene: GPC4 was added
gene: GPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GPC4 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: GPC4 were set to PMID: 30982611
Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026
Review for gene: GPC4 was set to GREEN
gene: GPC4 was marked as current diagnostic
Added comment: >3 unrelated individuals reported, functional studies in mice
Sources: Literature
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Marked gene: TBX3 as ready
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Classified gene: TBX3 as Green List (high evidence)
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.16 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome, MIM# 181450
Review for gene: TBX3 was set to GREEN
Added comment: VSD and WPW described.
Sources: Expert list
Mendeliome v0.830 KDM3B Alison Yeung Marked gene: KDM3B as ready
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.830 KDM3B Alison Yeung Classified gene: KDM3B as Green List (high evidence)
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Marked gene: LEMD2 as ready
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.14 TBX2 Zornitza Stark gene: TBX2 was added
gene: TBX2 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
Review for gene: TBX2 was set to AMBER
Added comment: Two families reported; congenital heart disease is part of the phenotype.
Sources: Expert list
Mendeliome v0.828 LEMD2 Alison Yeung gene: LEMD2 was added
gene: LEMD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to PMID: 30905398
Phenotypes for gene: LEMD2 were set to progeroid disorder
Review for gene: LEMD2 was set to AMBER
Added comment: two reported unrelated individuals, limited functional evidence
Sources: Literature
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Marked gene: ROBO1 as ready
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Classified gene: ROBO1 as Green List (high evidence)
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.12 ROBO1 Zornitza Stark gene: ROBO1 was added
gene: ROBO1 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO1 were set to 28592524
Phenotypes for gene: ROBO1 were set to Tetralogy of Fallot; septal defects
Review for gene: ROBO1 was set to GREEN
Added comment: Three families reported and a mouse model. Note mono allelic and bi-allelic variants in this gene also linked with pituitary abnormalities.
Sources: Expert list
Mendeliome v0.827 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Mendeliome v0.827 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.827 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from to Cardiac valvular defect, developmental, MIM# 212093
Mendeliome v0.826 PLD1 Zornitza Stark Publications for gene: PLD1 were set to
Mendeliome v0.825 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Mendeliome v0.825 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.825 PLD1 Zornitza Stark Mode of inheritance for gene: PLD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.824 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Mendeliome v0.824 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.823 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Mendeliome v0.823 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.65 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.822 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Ciliopathies v0.65 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.10 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093
Review for gene: PLD1 was set to AMBER
Added comment: Four individuals from two families reported.
Sources: Expert list
Ciliopathies v0.63 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Congenital Heart Defect v0.9 NONO Zornitza Stark Marked gene: NONO as ready
Congenital Heart Defect v0.9 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.9 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Congenital Heart Defect v0.9 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.8 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731; 27550220
Phenotypes for gene: NONO were set to Mental retardation, X-linked, syndromic 34, MIM# 300967
Review for gene: NONO was set to GREEN
Added comment: Structural heart defects and cardiomyopathy are features of this syndromic disorder.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.11 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital Heart Defect v0.6 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Mendeliome v0.821 CARS Alison Yeung Marked gene: CARS as ready
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.821 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.820 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Added comment: Three reported unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Marked gene: CARS as ready
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Ataxia v0.47 WDPCP Bryony Thompson Marked gene: WDPCP as ready
Ataxia v0.47 WDPCP Bryony Thompson Gene: wdpcp has been classified as Red List (Low Evidence).
Ataxia v0.47 WDPCP Bryony Thompson gene: WDPCP was added
gene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Review for gene: WDPCP was set to RED
Added comment: Ataxia not a reported phenotypic feature associated with this gene.`
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1607 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Review for gene: CARS was set to GREEN
gene: CARS was marked as current diagnostic
Added comment: Three reported unrelated families
Sources: Literature
Ataxia v0.46 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596
Review for gene: VRK1 was set to RED
Added comment: Ataxia can be a feature of the phenotype. Biallelic variants cause pontocerebellar hypoplasia and death before age 12, thus not a relevant gene for testing in an adult hospital.
Sources: Expert list
Ataxia v0.45 TTI1 Bryony Thompson Marked gene: TTI1 as ready
Ataxia v0.45 TTI1 Bryony Thompson Gene: tti1 has been classified as Red List (Low Evidence).
Ataxia v0.45 TTI1 Bryony Thompson gene: TTI1 was added
gene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to Unknown
Review for gene: TTI1 was set to RED
Added comment: No reported association with ataxia.
Sources: Expert list
Ataxia v0.44 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985
Review for gene: TTC8 was set to RED
Added comment: Ataxia is not a reported feature of this subtype of BBS
Sources: Expert list
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.818 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.231 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Ataxia v0.43 TSEN34 Bryony Thompson gene: TSEN34 was added
gene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390
Review for gene: TSEN34 was set to RED
Added comment: No publications associated with ataxia, and ataxia is not a prominent feature of the condition.
Sources: Expert list
Ataxia v0.42 TSEN2 Bryony Thompson gene: TSEN2 was added
gene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389
Review for gene: TSEN2 was set to RED
Added comment: Ataxia is not a prominent feature of this phenotype.
Sources: Expert list
Ataxia v0.41 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988
Review for gene: TRIM32 was set to RED
Added comment: Ataxia is not a reported feature associated with this gene.
Sources: Expert list
Ataxia v0.40 SVBP Bryony Thompson Classified gene: SVBP as Green List (high evidence)
Ataxia v0.40 SVBP Bryony Thompson Gene: svbp has been classified as Green List (High Evidence).
Ataxia v0.39 SVBP Bryony Thompson gene: SVBP was added
gene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Review for gene: SVBP was set to GREEN
Added comment: Ataxia is a prominent feature of the phenotype for this condition.
Sources: Expert list
Ataxia v0.38 SNAP25 Bryony Thompson Marked gene: SNAP25 as ready
Ataxia v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia v0.38 SNAP25 Bryony Thompson Classified gene: SNAP25 as Green List (high evidence)
Ataxia v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia v0.37 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29491473; 25381298; 17283335
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures
Review for gene: SNAP25 was set to GREEN
Added comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1605 MAPK8IP3 Alison Yeung gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
gene: MAPK8IP3 was marked as current diagnostic
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Marked gene: NCAPG2 as ready
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1602 NCAPG2 Alison Yeung gene: NCAPG2 was added
gene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Ataxia v0.36 SAR1B Bryony Thompson gene: SAR1B was added
gene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700
Review for gene: SAR1B was set to RED
Added comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Sources: Expert list
Mendeliome v0.817 NCAPG2 Zornitza Stark Marked gene: NCAPG2 as ready
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.817 NCAPG2 Zornitza Stark Classified gene: NCAPG2 as Green List (high evidence)
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.816 NCAPG2 Zornitza Stark gene: NCAPG2 was added
gene: NCAPG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Mendeliome v0.815 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.815 ADAMTS9 Zornitza Stark Classified gene: ADAMTS9 as Green List (high evidence)
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.814 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Review for gene: ADAMTS9 was set to GREEN
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Classified gene: ADAMTS9 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Gene: adamts9 has been classified as Green List (High Evidence).
Ataxia v0.35 RARS2 Bryony Thompson gene: RARS2 was added
gene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 31429931
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia
Review for gene: RARS2 was set to RED
Added comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Ataxia v0.34 KCNQ2 Bryony Thompson Classified gene: KCNQ2 as Amber List (moderate evidence)
Ataxia v0.34 KCNQ2 Bryony Thompson Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia v0.33 KCNQ2 Bryony Thompson reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22169383, 20962009, 10575255; Phenotypes: Early infantile epileptic encephalopathy 7, MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia v0.33 Bryony Thompson removed gene:CAPN1 from the panel
Ataxia v0.32 PNKD Bryony Thompson Classified gene: PNKD as Green List (high evidence)
Ataxia v0.32 PNKD Bryony Thompson Gene: pnkd has been classified as Green List (High Evidence).
Ataxia v0.31 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800
Review for gene: PNKD was set to GREEN
Added comment: Condition has many overlapping features with episodic ataxia.
Sources: Expert list
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence)
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Central Hypoventilation v0.5 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Central Hypoventilation. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Review for gene: SLC52A3 was set to GREEN
Added comment: Although this condition does not cause central hypoventilation, it can present with hypoventilation due to phrenic nerve palsy, and as it is treatable, it has been included in this panel.
Sources: Expert list
Proteinuria v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Haematuria_Alport v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.63 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from Branchiooculofacial syndrome, MIM# 113620 to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.60 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.60 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Haematuria_Alport v0.27 CFHR5 Zornitza Stark Publications for gene: CFHR5 were set to 30844074; 30197990; 24067434; 21566112; 20800271; 27490940; 24334459
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Publications for gene: CFHR5 were set to
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.25 CFHR5 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5.
Haematuria_Alport v0.25 CFHR5 Zornitza Stark edited their review of gene: CFHR5: Added comment: Review provided by Danny Gale (UCL):

4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.; Changed rating: GREEN; Changed publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.813 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.813 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.812 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1600 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Arthrogryposis v0.19 TBCD Zornitza Stark Marked gene: TBCD as ready
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Arthrogryposis v0.19 TBCD Zornitza Stark Classified gene: TBCD as Green List (high evidence)
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Microcephaly v0.72 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Microcephaly v0.72 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Mendeliome v0.811 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Mendeliome v0.810 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Mendeliome v0.809 BICC1 Zornitza Stark Classified gene: BICC1 as Red List (low evidence)
Mendeliome v0.809 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.807 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to 31656805; 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
gene: BNC2 was marked as current diagnostic
Added comment: At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.806 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Mendeliome v0.806 SIX2 Zornitza Stark Added comment: Comment when marking as ready: Single family reported.
Mendeliome v0.806 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.806 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Mendeliome v0.805 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Mendeliome v0.804 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.803 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Mendeliome v0.803 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).