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Intellectual disability syndromic and non-syndromic v0.2191 INTS1 Chern Lim reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1373 UGT1A4 Belinda Chong reviewed gene: UGT1A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2191 SEMA3E Zornitza Stark Classified gene: SEMA3E as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2191 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2190 SACS Zornitza Stark Marked gene: SACS as ready
Intellectual disability syndromic and non-syndromic v0.2190 SACS Zornitza Stark Gene: sacs has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2190 SACS Zornitza Stark Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Intellectual disability syndromic and non-syndromic v0.2189 SACS Zornitza Stark Publications for gene: SACS were set to
Intellectual disability syndromic and non-syndromic v0.2188 SACS Zornitza Stark Mode of inheritance for gene: SACS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2187 SACS Zornitza Stark Classified gene: SACS as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2187 SACS Zornitza Stark Gene: sacs has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2186 SACS Zornitza Stark reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: None; Publications: 28843771, 20876471, 28658676, 27871429; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.9 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Differences of Sex Development v0.9 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.9 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Differences of Sex Development v0.9 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.8 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Disorders of Sex Differentiation. Sources: Expert Review
SV/CNV tags were added to gene: SOX3.
Mode of inheritance for gene: SOX3 was set to Other
Publications for gene: SOX3 were set to 21183788; 22678921; 25781358; 31523625
Phenotypes for gene: SOX3 were set to XX male sex reversal
Mode of pathogenicity for gene: SOX3 was set to Other
Review for gene: SOX3 was set to AMBER
Added comment: Multiple individuals reported; animal model: association is with structural variants, primarily duplications.
Sources: Expert Review
Mendeliome v0.1373 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000; XX male sex reversal
Mendeliome v0.1372 SOX3 Zornitza Stark edited their review of gene: SOX3: Changed phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000, XX male sex reversal
Callosome v0.82 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Mendeliome v0.1372 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Mendeliome v0.1372 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1372 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Mendeliome v0.1371 SOX3 Zornitza Stark Publications for gene: SOX3 were set to
Mendeliome v0.1370 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1369 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Mendeliome v0.1369 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1368 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Mendeliome v0.1368 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.82 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Callosome v0.82 SOX3 Zornitza Stark Gene: sox3 has been classified as Red List (Low Evidence).
Callosome v0.82 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Callosome v0.81 SOX3 Zornitza Stark Publications for gene: SOX3 were set to
Callosome v0.80 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.79 SOX3 Zornitza Stark Classified gene: SOX3 as Red List (low evidence)
Callosome v0.79 SOX3 Zornitza Stark Gene: sox3 has been classified as Red List (Low Evidence).
Callosome v0.78 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2186 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Intellectual disability syndromic and non-syndromic v0.2185 SOX3 Zornitza Stark Publications for gene: SOX3 were set to
Intellectual disability syndromic and non-syndromic v0.2184 SOX3 Zornitza Stark Mode of pathogenicity for gene: SOX3 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2183 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2182 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2182 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2181 SOX3 Zornitza Stark edited their review of gene: SOX3: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2181 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM# 300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Macrocephaly_Megalencephaly v0.23 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Macrocephaly_Megalencephaly v0.23 AKT1 Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.23 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from Cowden syndrome 6, MIM#615109 to Cowden syndrome 6, MIM#615109
Macrocephaly_Megalencephaly v0.22 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from to Cowden syndrome 6, MIM#615109
Macrocephaly_Megalencephaly v0.21 AKT1 Zornitza Stark Publications for gene: AKT1 were set to 23246288
Macrocephaly_Megalencephaly v0.21 AKT1 Zornitza Stark Publications for gene: AKT1 were set to
Macrocephaly_Megalencephaly v0.20 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Macrocephaly_Megalencephaly v0.20 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.19 AKT1 Zornitza Stark Classified gene: AKT1 as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.19 AKT1 Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.18 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288; Phenotypes: Cowden syndrome 6, MIM#615109; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1368 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Mendeliome v0.1368 AKT1 Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1368 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1367 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from to Cowden syndrome 6, MIM#615109; Proteus syndrome, MIM#176920
Mendeliome v0.1366 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Mendeliome v0.1366 AKT1 Zornitza Stark Publications for gene: AKT1 were set to
Mendeliome v0.1365 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1364 AKT1 Zornitza Stark Classified gene: AKT1 as Amber List (moderate evidence)
Mendeliome v0.1364 AKT1 Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1363 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Mendeliome v0.1363 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Mendeliome v0.1363 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Heimler syndrome 2, MIM# 616617; Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862; Peroxisome biogenesis disorder 4B, MIM# 614863
Mendeliome v0.1362 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2181 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Intellectual disability syndromic and non-syndromic v0.2181 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2181 PUF60 Zornitza Stark Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM# 615583
Intellectual disability syndromic and non-syndromic v0.2180 PUF60 Zornitza Stark Publications for gene: PUF60 were set to
Intellectual disability syndromic and non-syndromic v0.2179 PUF60 Zornitza Stark Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2178 PUF60 Zornitza Stark reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: 28327570; Phenotypes: Verheij syndrome, MIM# 615583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1361 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Mendeliome v0.1361 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Mendeliome v0.1361 PUF60 Zornitza Stark Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM# 615583
Mendeliome v0.1360 PUF60 Zornitza Stark Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1359 ATRX Zornitza Stark Marked gene: ATRX as ready
Mendeliome v0.1359 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Mendeliome v0.1359 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
Mendeliome v0.1358 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hyperinsulinism v0.27 TRMT10A Zornitza Stark Classified gene: TRMT10A as Amber List (moderate evidence)
Hyperinsulinism v0.27 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v0.26 TRMT10A Zornitza Stark changed review comment from: Hyperinsulinaemia reported in some individuals with this condition.
Sources: Expert list; to: Hyperinsulinaemia reported in some individuals with this condition ?one family.
Sources: Expert list
Hyperinsulinism v0.26 TRMT10A Zornitza Stark edited their review of gene: TRMT10A: Changed rating: AMBER
Hyperinsulinism v0.26 TRMT10A Zornitza Stark edited their review of gene: TRMT10A: Changed publications: 25053765; Changed phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Hyperinsulinism v0.26 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from Insulinoma to Insulinoma; Multiple endocrine neoplasia 1, MIM# 131100
Hyperinsulinism v0.25 MEN1 Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: None
Hyperinsulinism v0.25 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Hyperinsulinism v0.25 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.25 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148
Hyperinsulinism v0.24 EIF2S3 Zornitza Stark Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyperinsulinism v0.23 EIF2S3 Zornitza Stark Classified gene: EIF2S3 as Red List (low evidence)
Hyperinsulinism v0.23 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.22 EIF2S3 Zornitza Stark reviewed gene: EIF2S3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyperinsulinism v0.22 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Hyperinsulinism v0.22 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Red List (Low Evidence).
Hyperinsulinism v0.22 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1D were set to 28318089; 23913001
Phenotypes for gene: CACNA1D were set to Hyperinsulinism; heart defect; hypotonia
Mode of pathogenicity for gene: CACNA1D was set to Other
Review for gene: CACNA1D was set to RED
Added comment: GoF de novo variant reported in infant with persistent hyperinsulinaemia, congenital heart disease and hypotonia. Same variant reported in another individual with some overlapping features and transient hypoglycaemia in the newborn period; however, hyperinsulinaemia not confirmed in this other individual.
Sources: Expert list
Hyperinsulinism v0.21 MPI Zornitza Stark Marked gene: MPI as ready
Hyperinsulinism v0.21 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Hyperinsulinism v0.21 MPI Zornitza Stark Classified gene: MPI as Red List (low evidence)
Hyperinsulinism v0.21 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Hyperinsulinism v0.20 MPI Michelle de Silva gene: MPI was added
gene: MPI was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to PMID: 29531722; 0980531
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579
Review for gene: MPI was set to AMBER
Added comment: There seems to be only one reported case of an infant with hyperinsulinaemic hypoglycaemia where there is molecular association with the MPI gene (PMID: 29531722).
Variants in MPI are shown to cause MPI-CDG (CDG-Ib; PMID: 0980531) and hypoglycaemia is a feature of MPI-CDG.
Sources: Expert Review
Hyperinsulinism v0.20 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Hyperinsulinism v0.20 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.20 MEN1 Zornitza Stark Classified gene: MEN1 as Green List (high evidence)
Hyperinsulinism v0.20 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.19 MEN1 Chloe Stutterd gene: MEN1 was added
gene: MEN1 was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to 20301710
Phenotypes for gene: MEN1 were set to Insulinoma
Review for gene: MEN1 was set to GREEN
Added comment: Sources: Expert Review
Hyperinsulinism v0.19 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Hyperinsulinism v0.19 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.19 PMM2 Zornitza Stark Tag 5'UTR tag was added to gene: PMM2.
Hyperinsulinism v0.19 PMM2 Zornitza Stark Classified gene: PMM2 as Green List (high evidence)
Hyperinsulinism v0.19 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.18 UCP2 Zornitza Stark Marked gene: UCP2 as ready
Hyperinsulinism v0.18 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v0.18 UCP2 Zornitza Stark Phenotypes for gene: UCP2 were changed from to Hyperinsulinism
Hyperinsulinism v0.17 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Hyperinsulinism v0.16 UCP2 Zornitza Stark Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.15 UCP2 Zornitza Stark Classified gene: UCP2 as Amber List (moderate evidence)
Hyperinsulinism v0.15 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v0.14 UCP2 Zornitza Stark reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272; Phenotypes: Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2178 SOX3 Chern Lim reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1357 AKT1 Elena Savva reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23246288; Phenotypes: Cowden syndrome 6, Proteus syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1357 PEX6 Elena Savva reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29220678; Phenotypes: Peroxisome biogenesis disorder 4B, Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.14 PMM2 Anna Le Fevre gene: PMM2 was added
gene: PMM2 was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to PMID: 28373276
Phenotypes for gene: PMM2 were set to Polycystic Kidney Disease; Hyperinsulinemic Hypoglycemia
Penetrance for gene: PMM2 were set to unknown
Mode of pathogenicity for gene: PMM2 was set to Other
Added comment: All patients had a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations.
Sources: Expert Review
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Classified gene: TRMT10A as Green List (high evidence)
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Hyperinsulinism v0.13 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Review for gene: TRMT10A was set to GREEN
Added comment: Hyperinsulinaemia reported in some individuals with this condition.
Sources: Expert list
Hyperinsulinism v0.12 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Hyperinsulinism v0.12 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.12 NSD1 Zornitza Stark Classified gene: NSD1 as Green List (high evidence)
Hyperinsulinism v0.12 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Classified gene: FOXA2 as Green List (high evidence)
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.10 FOXA2 Zornitza Stark gene: FOXA2 was added
gene: FOXA2 was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544
Phenotypes for gene: FOXA2 were set to Hyperinsulinaemia
Review for gene: FOXA2 was set to GREEN
Added comment: At least two families reported and functional data.
Sources: Expert list
Hyperinsulinism v0.9 NSD1 Chloe Stutterd gene: NSD1 was added
gene: NSD1 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD1 were set to 30719864
Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550)
Review for gene: NSD1 was set to GREEN
Added comment: Cohort of nine patients with hyperinsulinism, persistent in 3 of 9.
Sources: Literature
Hyperinsulinism v0.9 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Hyperinsulinism v0.9 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hyperinsulinism v0.9 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920
Hyperinsulinism v0.8 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Hyperinsulinism v0.8 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hyperinsulinism v0.7 KMT2D Chloe Stutterd gene: KMT2D was added
gene: KMT2D was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 29907798
Review for gene: KMT2D was set to GREEN
Added comment: Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period.
Sources: Expert Review
Hyperinsulinism v0.7 HK1 Zornitza Stark Marked gene: HK1 as ready
Hyperinsulinism v0.7 HK1 Zornitza Stark Gene: hk1 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.7 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from to Hyperinsulinaemia
Hyperinsulinism v0.6 HK1 Zornitza Stark Classified gene: HK1 as Red List (low evidence)
Hyperinsulinism v0.6 HK1 Zornitza Stark Gene: hk1 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.5 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Hyperinsulinism v0.5 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Hyperinsulinism v0.5 KDM6A Zornitza Stark Classified gene: KDM6A as Green List (high evidence)
Hyperinsulinism v0.5 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Hyperinsulinism v0.4 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: KDM6A was set to Other
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867
Review for gene: KDM6A was set to GREEN
Added comment: Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period.
Sources: Expert list
Hyperinsulinism v0.3 HK1 Chloe Stutterd gene: HK1 was added
gene: HK1 was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to 23859901
Review for gene: HK1 was set to RED
Added comment: Single family with hyperinsulinism.
Bi-allelic variants cause haemolytic anaemia, motor and sensory neuropathy.
Mono-allelic variants cause retinitis pigmentosa and neurodevelopmental syndrome.
Sources: Expert Review
Mendeliome v0.1357 PUF60 Elena Savva reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Verheij syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.3 INSR Zornitza Stark Marked gene: INSR as ready
Hyperinsulinism v0.3 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Hyperinsulinism v0.3 INSR Zornitza Stark Classified gene: INSR as Green List (high evidence)
Hyperinsulinism v0.3 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Mendeliome v0.1357 KMT2E Elena Savva reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hyperinsulinism v0.2 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 15161766; 26691667; 31989990
Phenotypes for gene: INSR were set to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
Review for gene: INSR was set to GREEN
Added comment: Monoallelic variants cause hyperinsulinaemic hypoglycaemia; only one family reported with bi-allelic variants and atypical presentation of Rabson-Mendenhall syndrome.
Sources: Expert Review
Mendeliome v0.1357 ATRX Elena Savva reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia myelodysplasia syndrome, somatic, Alpha-thalassemia/mental retardation syndrome, Mental retardation-hypotonic facies syndrome, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2178 PUM1 Zornitza Stark edited their review of gene: PUM1: Changed rating: GREEN
Mendeliome v0.1357 PTRHD1 Zornitza Stark Marked gene: PTRHD1 as ready
Mendeliome v0.1357 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1357 PTRHD1 Zornitza Stark Classified gene: PTRHD1 as Green List (high evidence)
Mendeliome v0.1357 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1356 PTRHD1 Zornitza Stark gene: PTRHD1 was added
gene: PTRHD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Review for gene: PTRHD1 was set to GREEN
Added comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Marked gene: PTRHD1 as ready
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Classified gene: PTRHD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2178 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2177 PTRHD1 Zornitza Stark gene: PTRHD1 was added
gene: PTRHD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Review for gene: PTRHD1 was set to GREEN
Added comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Classified gene: PTRH2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2176 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2175 PTRH2 Zornitza Stark gene: PTRH2 was added
gene: PTRH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25574476; 28175314; 28328138; 25558065; 27129381
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
Review for gene: PTRH2 was set to AMBER
Added comment: A spectrum of features associated with bi-allelic variants in this gene; however, ID only reported as a feature in two families.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2174 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Intellectual disability syndromic and non-syndromic v0.2174 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2174 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM# 610992; Neu-Laxova syndrome 2, MIM# 616038
Intellectual disability syndromic and non-syndromic v0.2173 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Intellectual disability syndromic and non-syndromic v0.2172 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2172 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2171 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2171 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2170 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26960553, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency, MIM# 610992, Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2170 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751 to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751; intellectual disability, autosomal recessive
Intellectual disability syndromic and non-syndromic v0.2169 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Intellectual disability syndromic and non-syndromic v0.2168 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2167 PRRT2 Zornitza Stark Classified gene: PRRT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2167 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: ID is not part of the phenotype for the mono allelic conditions; two families described with bi-allelic variants and more severe neurological phenotype, including ID.
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751, intellectual disability, autosomal recessive
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed rating: AMBER; Changed publications: 23352743, 25595153, 23398397; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2166 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751
Intellectual disability syndromic and non-syndromic v0.2165 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2164 PRRT2 Zornitza Stark Classified gene: PRRT2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2164 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2163 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2163 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Intellectual disability syndromic and non-syndromic v0.2163 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2163 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from to Pituitary hormone deficiency, combined, 1, MIM# 613038
Intellectual disability syndromic and non-syndromic v0.2162 POU1F1 Zornitza Stark Mode of inheritance for gene: POU1F1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2161 POU1F1 Zornitza Stark Classified gene: POU1F1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2161 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2160 POU1F1 Zornitza Stark reviewed gene: POU1F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1, MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Marked gene: POLR1C as ready
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Classified gene: POLR1C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2160 POLR1C Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2159 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1C were set to 26151409
Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM# 616494
Review for gene: POLR1C was set to GREEN
Added comment: 8 unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2158 PNP Zornitza Stark Classified gene: PNP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2158 PNP Zornitza Stark Gene: pnp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2157 PNP Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.2157 PNP Zornitza Stark edited their review of gene: PNP: Added comment: Neurological phenotype is predominantly spasticity rather than ID.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Classified gene: PMPCA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2157 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2156 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to 25808372; 26657514; 27148589; 30617178
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Review for gene: PMPCA was set to GREEN
Added comment: Seven families reported. Three had the same founder variant. ID observed in five of the affected families (includes the three with the same founder variant).
Sources: Expert list
Ciliopathies v0.68 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Ciliopathies v0.68 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Ciliopathies v0.68 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Ciliopathies v0.67 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Ciliopathies v0.66 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.85 GFER Zornitza Stark Marked gene: GFER as ready
Mitochondrial disease v0.85 GFER Zornitza Stark Gene: gfer has been classified as Green List (High Evidence).
Mitochondrial disease v0.85 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Mitochondrial disease v0.84 GFER Zornitza Stark Publications for gene: GFER were set to
Mitochondrial disease v0.83 GFER Zornitza Stark Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.82 GFER Zornitza Stark reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2155 GFER Zornitza Stark Marked gene: GFER as ready
Intellectual disability syndromic and non-syndromic v0.2155 GFER Zornitza Stark Gene: gfer has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2155 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Intellectual disability syndromic and non-syndromic v0.2154 GFER Zornitza Stark Publications for gene: GFER were set to
Intellectual disability syndromic and non-syndromic v0.2153 GFER Zornitza Stark Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2152 GFER Zornitza Stark reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1355 GFER Zornitza Stark Marked gene: GFER as ready
Mendeliome v0.1355 GFER Zornitza Stark Gene: gfer has been classified as Green List (High Evidence).
Mendeliome v0.1355 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Mendeliome v0.1354 GFER Zornitza Stark Publications for gene: GFER were set to
Mendeliome v0.1353 GFER Zornitza Stark Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.75 RPIA Zornitza Stark Marked gene: RPIA as ready
Regression v0.75 RPIA Zornitza Stark Gene: rpia has been classified as Amber List (Moderate Evidence).
Regression v0.75 RPIA Zornitza Stark Classified gene: RPIA as Amber List (moderate evidence)
Regression v0.75 RPIA Zornitza Stark Gene: rpia has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1352 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Mendeliome v0.1352 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Mendeliome v0.1352 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Mendeliome v0.1351 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Mendeliome v0.1350 KRT14 Zornitza Stark Mode of pathogenicity for gene: KRT14 was changed from to Other
Mendeliome v0.1349 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1348 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Epidermolysis bullosa v0.22 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Epidermolysis bullosa v0.21 KRT14 Zornitza Stark Mode of pathogenicity for gene: KRT14 was changed from to Other
Epidermolysis bullosa v0.20 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1348 GFER Ain Roesley reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.65 CC2D2A Kristin Rigbye reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510; Phenotypes: COACH syndrome, 216360, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Regression v0.74 RPIA Sebastian Lunke gene: RPIA was added
gene: RPIA was added to Regression. Sources: Expert Review
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to RPIA (ribose 5-phosphate isomerase A)
Review for gene: RPIA was set to AMBER
Added comment: Two of three patients described regressed in early childhood after earlier developmental delay

From GEL: Three patients described in total, one of these with functional data: Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay
Sources: Expert Review
Genetic Epilepsy v0.608 RPIA Sebastian Lunke Marked gene: RPIA as ready
Genetic Epilepsy v0.608 RPIA Sebastian Lunke Gene: rpia has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.608 RPIA Sebastian Lunke Classified gene: RPIA as Amber List (moderate evidence)
Genetic Epilepsy v0.608 RPIA Sebastian Lunke Gene: rpia has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.607 RPIA Sebastian Lunke gene: RPIA was added
gene: RPIA was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611
Review for gene: RPIA was set to AMBER
Added comment: 2 of three patients described had seizures.

From GEL: Three patients described in total, one of these with functional data:

Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy

Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities

Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Marked gene: RPIA as ready
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Gene: rpia has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Classified gene: RPIA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2152 RPIA Sebastian Lunke Gene: rpia has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.18 PTCH2 Kristin Rigbye Deleted their review
Motor Neurone Disease v0.5 SLC52A1 Kristin Rigbye Deleted their review
Intellectual disability syndromic and non-syndromic v0.2151 RPIA Sebastian Lunke gene: RPIA was added
gene: RPIA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611
Review for gene: RPIA was set to GREEN
gene: RPIA was marked as current diagnostic
Added comment: From GEL: Three patients described in total, one of these with functional data:

Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy

Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities

Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay
Sources: Expert Review
Epidermolysis bullosa v0.19 KRT14 Kristin Rigbye reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Marked gene: PLEKHG2 as ready
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1348 PLEKHG2 Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence)
Mendeliome v0.1348 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1347 PLEKHG2 Zornitza Stark edited their review of gene: PLEKHG2: Added comment: Further family identified, promote to Amber.; Changed rating: AMBER; Changed publications: 26539891, 24001768, 26573021; Changed phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2150 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2149 PLEKHG2 Zornitza Stark gene: PLEKHG2 was added
gene: PLEKHG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26539891; 24001768; 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: Three families reported; however, two had the same homozygous variant (founder effect).
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.8 TSFM Bryony Thompson Classified gene: TSFM as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.8 TSFM Bryony Thompson Gene: tsfm has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.7 TSFM Bryony Thompson reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: 31267352; Phenotypes: Combined oxidative phosphorylation deficiency 3 MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.7 TYMP Bryony Thompson reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1347 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mendeliome v0.1347 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mendeliome v0.1347 PITRM1 Zornitza Stark Classified gene: PITRM1 as Green List (high evidence)
Mendeliome v0.1347 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mendeliome v0.1346 PITRM1 Zornitza Stark gene: PITRM1 was added
gene: PITRM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Classified gene: PITRM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2148 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2147 PITRM1 Zornitza Stark gene: PITRM1 was added
gene: PITRM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2146 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2145 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
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, 618440
Review for gene: PIK3C2A was set to GREEN
Added comment: Three unrelated families, ID is part of the phenotype.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.7 TSEN54 Bryony Thompson Classified gene: TSEN54 as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.7 TSEN54 Bryony Thompson Gene: tsen54 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.6 TSEN54 Bryony Thompson reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.6 SUCLA2 Bryony Thompson Classified gene: SUCLA2 as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.6 SUCLA2 Bryony Thompson Gene: sucla2 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.5 SUCLA2 Bryony Thompson reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2144 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Intellectual disability syndromic and non-syndromic v0.2144 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2144 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Encephalopathy, neonatal severe 300673 XLR; Mental retardation, X-linked, syndromic 13 300055 XLR; Rett syndrome 312750 XLD
Intellectual disability syndromic and non-syndromic v0.2143 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Intellectual disability syndromic and non-syndromic v0.2142 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to Other
Rhabdomyolysis and Metabolic Myopathy v0.5 PRKAG2 Bryony Thompson Classified gene: PRKAG2 as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.5 PRKAG2 Bryony Thompson Gene: prkag2 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.4 PRKAG2 Bryony Thompson reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Marked gene: CSGALNACT1 as ready
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Gene: csgalnact1 has been classified as Green List (High Evidence).
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Classified gene: CSGALNACT1 as Green List (high evidence)
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Gene: csgalnact1 has been classified as Green List (High Evidence).
Mendeliome v0.1344 CSGALNACT1 Tiong Tan gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Mendeliome. Sources: Expert Review,Literature
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSGALNACT1 were set to Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Two unrelated families and functional studies
Sources: Expert Review, Literature
Intellectual disability syndromic and non-syndromic v0.2141 VARS Chirag Patel Classified gene: VARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2141 VARS Chirag Patel Gene: vars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2140 VARS Chirag Patel Classified gene: VARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2140 VARS Chirag Patel Gene: vars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2139 VARS Chirag Patel gene: VARS was added
gene: VARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004
Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802
Review for gene: VARS was set to GREEN
Added comment: 14 families with 20 affected individuals
- homozygous missense or compound heterozygous mutations in VARS
- mutations segregated with the disorder in the families
- functional studies in some cases
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2138 WDR4 Chirag Patel changed review comment from: Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.



Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list; to: Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.
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Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2138 WDR4 Chirag Patel Classified gene: WDR4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2138 WDR4 Chirag Patel Gene: wdr4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2137 WDR4 Chirag Patel gene: WDR4 was added
gene: WDR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965
Phenotypes for gene: WDR4 were set to Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346
Review for gene: WDR4 was set to GREEN
Added comment: Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.



Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2136 XIST Chirag Patel Classified gene: XIST as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2136 XIST Chirag Patel Gene: xist has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2135 XIST Chirag Patel reviewed gene: XIST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2135 YAP1 Chirag Patel Classified gene: YAP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2135 YAP1 Chirag Patel Gene: yap1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2134 YAP1 Chirag Patel reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24462371; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM #120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.12 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Hypertension and Aldosterone disorders v0.12 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.12 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from to ?Liddle syndrome 3 618126 AD; Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.
Hypertension and Aldosterone disorders v0.11 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Hypertension and Aldosterone disorders v0.10 SCNN1A Zornitza Stark Mode of pathogenicity for gene: SCNN1A was changed from to Other
Hypertension and Aldosterone disorders v0.9 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2134 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Intellectual disability syndromic and non-syndromic v0.2134 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Autism v0.67 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Autism v0.67 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Autism v0.67 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Autism v0.66 UNC13A Zornitza Stark Publications for gene: UNC13A were set to
Autism v0.65 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2134 WFS1 Chirag Patel changed review comment from: Very clear ID gene.; to: ID is a feature of condition, albeit rare.
Autism v0.64 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Autism v0.64 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2134 UNC13A Zornitza Stark Publications for gene: UNC13A were set to
Autism v0.63 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.8 SCNN1A Michelle Torres reviewed gene: SCNN1A: Rating: ; Mode of pathogenicity: Other; Publications: 31301676, 28710092; Phenotypes: ?Liddle syndrome 3 618126 AD, Bronchiectasis with or without elevated sweat chloride 2 613021 AD, Pseudohypoaldosteronism, type I 264350 AR.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2133 WFS1 Chirag Patel reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, OMIM #222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1343 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Mendeliome v0.1343 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Mendeliome v0.1343 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Mendeliome v0.1342 UNC13A Zornitza Stark Publications for gene: UNC13A were set to
Mendeliome v0.1341 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.4 FKTN Bryony Thompson Classified gene: FKTN as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.4 FKTN Bryony Thompson Gene: fktn has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.3 FKTN Bryony Thompson reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1340 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Mendeliome v0.1340 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2133 VPS37A Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2132 USP18 Chirag Patel reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 31940699, 12833411, 27325888; Phenotypes: Pseudo-TORCH syndrome 2, OMIM #617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.17 Zornitza Stark Panel name changed from Congenital Myasthenic Syndrome_RMH to Congenital Myasthenia
Intellectual disability syndromic and non-syndromic v0.2132 MECP2 Michelle Torres reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301670; Phenotypes: Encephalopathy, neonatal severe 300673 XLR, Mental retardation, X-linked syndromic, Lubs type 300260 XLR, Mental retardation, X-linked, syndromic 13 300055 XLR, Rett syndrome 312750 XLD, Rett syndrome, atypical 312750 XLD, Rett syndrome, preserved speech variant 312750 XLD, {Autism susceptibility, X-linked 3} 300496 XL; Mode of inheritance: Other; Current diagnostic: yes
Rhabdomyolysis and Metabolic Myopathy v0.3 ETFB Bryony Thompson Classified gene: ETFB as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.3 ETFB Bryony Thompson Gene: etfb has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.2 ETFB Bryony Thompson reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12815589, 7912128; Phenotypes: Glutaric acidemia IIB MIM#231680; Mode of inheritance: None
Congenital Myasthenia v0.16 PREPL Zornitza Stark Marked gene: PREPL as ready
Congenital Myasthenia v0.16 PREPL Zornitza Stark Gene: prepl has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v0.16 PREPL Zornitza Stark Publications for gene: PREPL were set to
Congenital Myasthenia v0.15 PREPL Zornitza Stark Classified gene: PREPL as Amber List (moderate evidence)
Congenital Myasthenia v0.15 PREPL Zornitza Stark Gene: prepl has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v0.14 PREPL Zornitza Stark reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483676, 28726805, 24610330, 27472506; Phenotypes: Myasthenic syndrome, congenital, 22, MIM# 616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Classified gene: UPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Gene: upb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Classified gene: UPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Gene: upb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Classified gene: UPB1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2132 UPB1 Chirag Patel Gene: upb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2131 UPB1 Chirag Patel reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beta-ureidopropionase deficiency, OMIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2131 UFC1 Chirag Patel Classified gene: UFC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2131 UFC1 Chirag Patel Gene: ufc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2130 UFC1 Chirag Patel gene: UFC1 was added
gene: UFC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFC1 were set to PubMed: 29868776
Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth; OMIM #618076
Review for gene: UFC1 was set to GREEN
Added comment: 3 consanguineous Saudi families with neurodevelopmental disorder with spasticity and poor growth with a homozygous missense mutation in the UFC1 gene. An unrelated Swiss boy with same phenotype found to have a different homozygous mutation in the UFC1 gene. Total 8 patients from 4 families.

The mutations segregated with the disorder in the families. In vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1 (610553). Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and Nahorski et al. (2018) suggested that complete loss of function would be embryonic lethal.
Sources: Expert list
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Marked gene: RPH3A as ready
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Gene: rph3a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Classified gene: RPH3A as Red List (low evidence)
Congenital Myasthenia v0.14 RPH3A Zornitza Stark Gene: rph3a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.13 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Congenital Myasthenia v0.13 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.13 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Congenital Myasthenia v0.12 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Congenital Myasthenia v0.12 SNAP25 Zornitza Stark Gene: snap25 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.12 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Congenital Myasthenia v0.11 SNAP25 Zornitza Stark Classified gene: SNAP25 as Red List (low evidence)
Congenital Myasthenia v0.11 SNAP25 Zornitza Stark Gene: snap25 has been classified as Red List (Low Evidence).
Mendeliome v0.1339 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2129 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Congenital Myasthenia v0.10 SNAP25 Kunal Verma reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: None; Publications: 25381298; Phenotypes: ?Myasthenic syndrome, congenital, 18 616330; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2128 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2127 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2127 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2126 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.10 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Congenital Myasthenia v0.10 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.10 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from microcephaly, cortical hyperexcitability, and fatal myasthenia to microcephaly, cortical hyperexcitability, and fatal myasthenia; dyskinesia; autism; developmental delay
Congenital Myasthenia v0.9 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Congenital Myasthenia v0.9 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.8 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v0.8 SLC25A1 Kunal Verma reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26870663, 31527857; Phenotypes: ?Myasthenic syndrome, congenital, 23, presynaptic 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.8 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Congenital Myasthenia v0.8 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.8 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from presynaptic CMS; Congenital myasthenic syndrome to presynaptic CMS; Myasthenic syndrome, congenital, 25, MIM# 618323
Congenital Myasthenia v0.7 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Congenital Myasthenia v0.6 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.6 PLEC Zornitza Stark Marked gene: PLEC as ready
Congenital Myasthenia v0.6 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Congenital Myasthenia v0.6 PLEC Zornitza Stark Classified gene: PLEC as Green List (high evidence)
Congenital Myasthenia v0.6 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Congenital Myasthenia v0.5 RPH3A Kunal Verma reviewed gene: RPH3A: Rating: RED; Mode of pathogenicity: None; Publications: 29441694; Phenotypes: congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.5 Zornitza Stark Panel name changed from Congenital Myaesthenic Syndrome_RMH to Congenital Myasthenic Syndrome_RMH
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Congenital Disorders of Glycosylation v0.38 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Congenital Disorders of Glycosylation v0.38 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.38 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Congenital Disorders of Glycosylation v0.37 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Congenital Disorders of Glycosylation v0.37 ALG14 Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.4 PLEC Kunal Verma gene: PLEC was added
gene: PLEC was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert list
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 31509265; 21263134; 20624679
Phenotypes for gene: PLEC were set to epidermolysis bullosa; congenital myasthenic syndrome
Review for gene: PLEC was set to GREEN
Added comment: 5 patients from three independent families; all had EB, some additionally had muscular dystrophy.
Sources: Expert list
Congenital Myasthenia v0.4 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Congenital Myasthenia v0.4 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.4 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Congenital Myasthenia v0.3 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Congenital Myasthenia v0.3 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Congenital Myasthenia v0.3 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations to Pierson syndrome, MIM# 609049; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Congenital Myasthenia v0.2 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Congenital Myasthenia v0.1 LAMB2 Zornitza Stark Classified gene: LAMB2 as Red List (low evidence)
Congenital Myasthenia v0.1 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2126 PIGY Zornitza Stark reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: None; Publications: 26293662; Phenotypes: Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.0 ALG14 Kunal Verma reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 23404334, 28733338; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Myasthenia, myopathy, neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Marked gene: PIGP as ready
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Classified gene: PIGP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2126 PIGP Zornitza Stark Gene: pigp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2125 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 31139695
Phenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, 617599
Review for gene: PIGP was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Rhabdomyolysis and Metabolic Myopathy v0.2 ACADM Bryony Thompson Marked gene: ACADM as ready
Rhabdomyolysis and Metabolic Myopathy v0.2 ACADM Bryony Thompson Gene: acadm has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.2 ACADM Bryony Thompson Classified gene: ACADM as Red List (low evidence)
Rhabdomyolysis and Metabolic Myopathy v0.2 ACADM Bryony Thompson Gene: acadm has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.1 ACADM Bryony Thompson reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2124 ZBTB11 Chirag Patel Classified gene: ZBTB11 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2124 ZBTB11 Chirag Patel Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2123 ZBTB11 Chirag Patel reviewed gene: ZBTB11: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 29893856; Phenotypes: Intellectual developmental disorder, autosomal recessive 69, OMIM #618383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2123 ZBTB16 Chirag Patel Classified gene: ZBTB16 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2123 ZBTB16 Chirag Patel Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2122 ZBTB16 Chirag Patel reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18611983; Phenotypes: Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Classified gene: TOR1AIP1 as Green List (high evidence)
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Added comment: Comment on list classification: Phenotype appears to be variable depending on which isoform is affected by the variants.
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Gene: tor1aip1 has been classified as Green List (High Evidence).
Mendeliome v0.1338 TOR1AIP1 Bryony Thompson gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072
Review for gene: TOR1AIP1 was set to GREEN
Added comment: At least 5 families/cases reported with muscular dystrophy and sometimes cardiomyopathy.
Sources: Expert list
Mendeliome v0.1337 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Holoprosencephaly and septo-optic dysplasia v0.12 PPP1R12A Zornitza Stark changed review comment from: Emerging evidence.; to: 12 unrelated individuals now published.
Holoprosencephaly and septo-optic dysplasia v0.12 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Differences of Sex Development v0.7 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Differences of Sex Development v0.6 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Intellectual disability syndromic and non-syndromic v0.2122 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Intellectual disability syndromic and non-syndromic v0.2122 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.2121 ZBTB24 Chirag Patel reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 21906047, 21596365, 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM # 614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.6 SPTBN4 Bryony Thompson Classified gene: SPTBN4 as Green List (high evidence)
Hereditary Neuropathy v0.6 SPTBN4 Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2121 SPTBN4 Bryony Thompson gene: SPTBN4 was added
gene: SPTBN4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105
Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Review for gene: SPTBN4 was set to GREEN
Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy
Sources: Literature
Hereditary Neuropathy v0.5 SPTBN4 Bryony Thompson gene: SPTBN4 was added
gene: SPTBN4 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105
Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Review for gene: SPTBN4 was set to GREEN
Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2120 ZFHX3 Chirag Patel Classified gene: ZFHX3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2120 ZFHX3 Chirag Patel Gene: zfhx3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2119 ZFHX3 Chirag Patel reviewed gene: ZFHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2119 ZNF81 Chirag Patel Classified gene: ZNF81 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2119 ZNF81 Chirag Patel Gene: znf81 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2118 ZNF81 Chirag Patel reviewed gene: ZNF81: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 15121780; Phenotypes: mental retardation; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2118 ZIC1 Chirag Patel Classified gene: ZIC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2118 ZIC1 Chirag Patel Gene: zic1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2117 ZIC1 Chirag Patel gene: ZIC1 was added
gene: ZIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC1 were set to PMID: 26340333, 30391508
Phenotypes for gene: ZIC1 were set to Structural brain anomalies with impaired intellectual development and craniosynostosis; OMIM #618736 
Review for gene: ZIC1 was set to GREEN
Added comment: 5 families with heterozygous mutations located in the final (third) exon of ZIC1 who have a distinct phenotype in which severe craniosynostosis, specifically involving the coronal sutures, and variable learning disability are the most characteristic features. The location of the nonsense mutations predicts escape of mutant ZIC1 transcripts from nonsense-mediated decay, which was confirmed in a cell line from an affected individual. Both nonsense and missense mutations are associated with altered and/or enhanced expression of a target gene, engrailed-2, in a Xenopus embryo assay. Analysis of mouse embryos revealed a localized domain of Zic1 expression at embryonic days 11.5-12.5 in a region overlapping the supraorbital regulatory center, which patterns the coronal suture.

2 sibs with BAIDCS, Vandervore et al. (2018) identified heterozygosity for a frameshift mutation in the ZIC1 gene. Neither parent had evidence of the mutation by whole-exome sequencing, suggesting that gonadal mosaicism for the mutation was present in one of the parents. Expression of the mutated allele was detected in patient fibroblasts by RT-PCR, evidence that the mutant mRNA did not undergo nonsense-mediated decay and probably generates an abnormal protein.


Also heterozygous deletions of ZIC1 on chromosome 3q25.1 are associated with Dandy-Walker malformation of the cerebellum. Loss of the orthologous Zic1 gene in the mouse causes cerebellar hypoplasia and vertebral defects.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2116 ZNF148 Chirag Patel Classified gene: ZNF148 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2116 ZNF148 Chirag Patel Gene: znf148 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2115 ZNF148 Chirag Patel gene: ZNF148 was added
gene: ZNF148 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to PMID: 27964749
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; OMIM #617260
Review for gene: ZNF148 was set to GREEN
Added comment: 4 patients with de novo heterozygous nonsense or frameshift mutations in the ZNF148 gene. Patients characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional evidence.
Sources: Expert list
Mendeliome v0.1337 BCKDHB Melanie Marty reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Marked gene: EML1 as ready
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2114 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Intellectual disability syndromic and non-syndromic v0.2113 EML1 Zornitza Stark Publications for gene: EML1 were set to
Intellectual disability syndromic and non-syndromic v0.2112 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2111 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.606 EML1 Zornitza Stark Marked gene: EML1 as ready
Genetic Epilepsy v0.606 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.606 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Genetic Epilepsy v0.605 EML1 Zornitza Stark Publications for gene: EML1 were set to
Genetic Epilepsy v0.604 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.603 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.22 EML1 Zornitza Stark Marked gene: EML1 as ready
Polymicrogyria and Schizencephaly v0.22 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.22 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Polymicrogyria and Schizencephaly v0.21 EML1 Zornitza Stark Publications for gene: EML1 were set to
Polymicrogyria and Schizencephaly v0.20 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.19 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.24 EML1 Zornitza Stark Marked gene: EML1 as ready
Lissencephaly and Band Heterotopia v0.24 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.24 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Lissencephaly and Band Heterotopia v0.23 EML1 Zornitza Stark Publications for gene: EML1 were set to
Lissencephaly and Band Heterotopia v0.22 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.21 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1337 EML1 Zornitza Stark Marked gene: EML1 as ready
Mendeliome v0.1337 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Mendeliome v0.1337 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Mendeliome v0.1336 EML1 Zornitza Stark Publications for gene: EML1 were set to
Mendeliome v0.1335 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.18 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Hypertrophic cardiomyopathy v0.18 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.18 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, 611878; Cardiomyopathy, hypertrophic, 3, 115196; Left ventricular noncompaction 9, 611878
Hypertrophic cardiomyopathy v0.17 TPM1 Zornitza Stark Publications for gene: TPM1 were set to
Hypertrophic cardiomyopathy v0.16 TPM1 Zornitza Stark Mode of pathogenicity for gene: TPM1 was changed from to Other
Hypertrophic cardiomyopathy v0.15 TPM1 Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Marked gene: WAC as ready
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Gene: wac has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2111 WAC Zornitza Stark Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome 616708
Intellectual disability syndromic and non-syndromic v0.2110 WAC Zornitza Stark Publications for gene: WAC were set to
Intellectual disability syndromic and non-syndromic v0.2109 WAC Zornitza Stark Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.14 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Hypertrophic cardiomyopathy v0.14 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.14 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, 615396; Cardiomyopathy, hypertrophic, 4, 115197; Left ventricular noncompaction 10, 615396
Hypertrophic cardiomyopathy v0.13 MYBPC3 Zornitza Stark Publications for gene: MYBPC3 were set to
Hypertrophic cardiomyopathy v0.12 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.11 TPM1 Kristin Rigbye Deleted their comment
Hypertrophic cardiomyopathy v0.11 TPM1 Kristin Rigbye edited their review of gene: TPM1: Added comment: Well known gene-disease association.
Mechanism not established, but likely gain of function; it's possible that HCM variants are GoF, whilst DCM variants are LoF (PMID: 31270709).; Changed phenotypes: Cardiomyopathy, dilated, 1Y, 611878, Cardiomyopathy, hypertrophic, 3, 115196, Left ventricular noncompaction 9, 611878
Hypertrophic cardiomyopathy v0.11 MYBPC3 Kristin Rigbye reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20378854; Phenotypes: Cardiomyopathy, dilated, 1MM, 615396, Cardiomyopathy, hypertrophic, 4, 115197, Left ventricular noncompaction 10, 615396; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2108 WAC Melanie Marty edited their review of gene: WAC: Changed phenotypes: Desanto-Shinawi syndrome 616708
Hypertrophic cardiomyopathy v0.11 MYBPC3 Kristin Rigbye Deleted their review
Hypertrophic cardiomyopathy v0.11 MYBPC3 Kristin Rigbye changed review comment from: Well known gene-disease association; to: Well known gene-disease association
Mendeliome v0.1334 ELMO2 Zornitza Stark Marked gene: ELMO2 as ready
Mendeliome v0.1334 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Green List (High Evidence).
Mendeliome v0.1334 ELMO2 Zornitza Stark Classified gene: ELMO2 as Green List (high evidence)
Mendeliome v0.1334 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2108 WAC Melanie Marty reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232; Phenotypes: Desanto-Shinawi syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1333 ELMO2 Zornitza Stark gene: ELMO2 was added
gene: ELMO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMO2 were set to 27476657
Phenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893
Review for gene: ELMO2 was set to GREEN
Added comment: Five unrelated families reported.
Sources: Expert list
Mendeliome v0.1332 HHIP Zornitza Stark Marked gene: HHIP as ready
Mendeliome v0.1332 HHIP Zornitza Stark Gene: hhip has been classified as Red List (Low Evidence).
Mendeliome v0.1332 HHIP Zornitza Stark Publications for gene: HHIP were set to
Mendeliome v0.1331 HHIP Zornitza Stark Classified gene: HHIP as Red List (low evidence)
Mendeliome v0.1331 HHIP Zornitza Stark Gene: hhip has been classified as Red List (Low Evidence).
Mendeliome v0.1330 HHIP Zornitza Stark edited their review of gene: HHIP: Changed rating: RED
Mendeliome v0.1330 HHIP Zornitza Stark reviewed gene: HHIP: Rating: ; Mode of pathogenicity: None; Publications: 27082974, 31631996; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1330 FRA10AC1 Zornitza Stark Marked gene: FRA10AC1 as ready
Mendeliome v0.1330 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Red List (Low Evidence).
Mendeliome v0.1330 FRA10AC1 Zornitza Stark Publications for gene: FRA10AC1 were set to
Mendeliome v0.1329 FRA10AC1 Zornitza Stark Classified gene: FRA10AC1 as Red List (low evidence)
Mendeliome v0.1329 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Red List (Low Evidence).
Mendeliome v0.1328 FRA10AC1 Zornitza Stark reviewed gene: FRA10AC1: Rating: RED; Mode of pathogenicity: None; Publications: 15203205; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1328 MMP25 Zornitza Stark Marked gene: MMP25 as ready
Mendeliome v0.1328 MMP25 Zornitza Stark Gene: mmp25 has been classified as Red List (Low Evidence).
Mendeliome v0.1328 MMP25 Zornitza Stark Classified gene: MMP25 as Red List (low evidence)
Mendeliome v0.1328 MMP25 Zornitza Stark Gene: mmp25 has been classified as Red List (Low Evidence).
Mendeliome v0.1327 MMP25 Zornitza Stark reviewed gene: MMP25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v0.11 TPM1 Kristin Rigbye reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31270709; Phenotypes: Cardiomyopathy, dilated, 1Y, Cardiomyopathy, hypertrophic, 3, Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.11 MYBPC3 Kristin Rigbye reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20378854; Phenotypes: Cardiomyopathy, dilated, 1MM, Cardiomyopathy, hypertrophic, 4, Left ventricular noncompaction 10; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1327 EML1 Ain Roesley reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2108 GLS Zornitza Stark edited their review of gene: GLS: Added comment: In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.; Changed mode of pathogenicity: Other; Changed publications: 30970188, 30239721; Changed phenotypes: Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.82 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Mitochondrial disease v0.82 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.82 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26
Mitochondrial disease v0.81 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Mitochondrial disease v0.80 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.18 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Skeletal Dysplasia_Fetal v0.18 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.18 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220
Skeletal Dysplasia_Fetal v0.17 COL1A1 Zornitza Stark Publications for gene: COL1A1 were set to
Skeletal Dysplasia_Fetal v0.16 COL1A1 Zornitza Stark Mode of pathogenicity for gene: COL1A1 was changed from to Other
Skeletal Dysplasia_Fetal v0.15 COL1A1 Zornitza Stark Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1327 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.1326 MAP3K20 Bryony Thompson Classified gene: MAP3K20 as Green List (high evidence)
Mendeliome v0.1326 MAP3K20 Bryony Thompson Gene: map3k20 has been classified as Green List (High Evidence).
Mendeliome v0.1325 MAP3K20 Bryony Thompson gene: MAP3K20 was added
gene: MAP3K20 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 27816943; 26755636
Phenotypes for gene: MAP3K20 were set to Centronuclear myopathy 6 with fiber-type disproportion MIM#617760; Split-foot malformation with mesoaxial polydactyly MIM#616890
Review for gene: MAP3K20 was set to GREEN
Added comment: 3 unrelated consanguineous families homozygous for 3 different variants with centronuclear myopathy, and at least 2 families reported with split-foot malformation. Null mouse model is embryonic lethal due to severe cardiac edema and growth retardation. Gene alias of ZAK used in the published studies.
Sources: Expert list
Skeletal Dysplasia_Fetal v0.14 COL1A1 Chern Lim reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12362985, 28956891; Phenotypes: Caffey disease, MIM#114000, Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060, Osteogenesis imperfecta, type I, MIM#166200, Osteogenesis imperfecta, type II, MIM#166210, Osteogenesis imperfecta, type III, MIM#259420, Osteogenesis imperfecta, type IV, MIM#166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark edited their review of gene: PIGH: Changed publications: 29573052, 29603516
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Marked gene: PIGH as ready
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2108 PIGH Zornitza Stark Publications for gene: PIGH were set to 29573052; 29603510
Intellectual disability syndromic and non-syndromic v0.2107 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2107 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2106 PIGH Zornitza Stark edited their review of gene: PIGH: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2106 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29573052; 29603510
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010
Review for gene: PIGH was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2105 PIGC Zornitza Stark reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2105 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2104 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to 24726473
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Intellectual disability syndromic and non-syndromic v0.2103 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2102 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2101 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24726473; Phenotypes: Marden-Walker syndrome, MIM# 248700, Arthrogryposis, distal, type 3, MIM# 114300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.16 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.15 PIBF1 Zornitza Stark gene: PIBF1 was added
gene: PIBF1 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Marked gene: PHACTR1 as ready
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2101 PHACTR1 Zornitza Stark Phenotypes for gene: PHACTR1 were changed from Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder to Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Classified gene: PHACTR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2100 PHACTR1 Zornitza Stark Gene: phactr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2099 PHACTR1 Zornitza Stark gene: PHACTR1 was added
gene: PHACTR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902; 28135719; 23033978; 27457812
Phenotypes for gene: PHACTR1 were set to Seizures:Epileptic encephalopathy, early infantile, 70, MIM# 618298; PHACTR1-associated neurodevelopment disorder
Penetrance for gene: PHACTR1 were set to Incomplete
Mode of pathogenicity for gene: PHACTR1 was set to Other
Review for gene: PHACTR1 was set to GREEN
gene: PHACTR1 was marked as current diagnostic
Added comment: 6 unrelated individuals reported altogether with variants in this gene. Several as part of large cohorts, so limited variant and patient characterisation. One variant reported by de Ligt et al is present in the population (4 individuals) suggesting reduced penetrance. However, functional data (including mouse model) for this and other variants exerting a dominant negative effect.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Marked gene: PET100 as ready
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2098 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, MIM# 220110
Intellectual disability syndromic and non-syndromic v0.2097 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Intellectual disability syndromic and non-syndromic v0.2096 PET100 Zornitza Stark Publications for gene: PET100 were set to
Intellectual disability syndromic and non-syndromic v0.2095 PET100 Zornitza Stark Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.79 NDUFA9 Teresa Zhao reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2094 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2094 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2093 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2092 PDHB Zornitza Stark edited their review of gene: PDHB: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1324 PCDH10 Zornitza Stark Marked gene: PCDH10 as ready
Mendeliome v0.1324 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Mendeliome v0.1324 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from to Autism
Mendeliome v0.1323 PCDH10 Zornitza Stark Publications for gene: PCDH10 were set to
Mendeliome v0.1322 PCDH10 Zornitza Stark Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1321 PCDH10 Zornitza Stark Classified gene: PCDH10 as Red List (low evidence)
Mendeliome v0.1321 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Mendeliome v0.1320 PCDH10 Zornitza Stark reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Marked gene: PCDH10 as ready
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2092 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2091 PCDH10 Zornitza Stark Phenotypes for gene: PCDH10 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.2090 PCDH10 Zornitza Stark Publications for gene: PCDH10 were set to
Intellectual disability syndromic and non-syndromic v0.2089 PCDH10 Zornitza Stark Mode of inheritance for gene: PCDH10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2088 PCDH10 Zornitza Stark Classified gene: PCDH10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2088 PCDH10 Zornitza Stark Gene: pcdh10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2087 PCDH10 Zornitza Stark reviewed gene: PCDH10: Rating: RED; Mode of pathogenicity: None; Publications: 27567313, 18621663; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Myopathy Superpanel v0.0 Bryony Thompson Added Panel Myopathy Superpanel
Set child panels to: Myopathy - congenital; Myopathy - adult onset
Set panel types to: Royal Melbourne Hospital; Rare Disease
Haematuria_Alport v0.32 Sebastian Lunke Panel name changed from Haematuria/Alport to Haematuria_Alport
Haematuria_Alport v0.32 Sebastian Lunke Panel name changed from Haematuria/Alport to Haematuria_Alport
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Marked gene: PAX7 as ready
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2087 PAX7 Zornitza Stark Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578
Intellectual disability syndromic and non-syndromic v0.2086 PAX7 Zornitza Stark Mode of inheritance for gene: PAX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2085 PAX7 Zornitza Stark Classified gene: PAX7 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2085 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2084 PAX7 Zornitza Stark reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, progressive, with scoliosis, MIM# 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2084 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2083 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to 28805828; 28272532
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM# 617729
Review for gene: OSGEP was set to GREEN
gene: OSGEP was marked as current diagnostic
Added comment: 25 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2082 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from to Meier-Gorlin syndrome 1, MIM# 224690
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Mode of inheritance for gene: ORC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2081 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2080 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark edited their review of gene: LYST: Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark changed review comment from: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.; to: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true ID including in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2080 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2079 LYST Zornitza Stark commented on gene: LYST: Review in light of Genomics England curator assessments: More commonly progressive movement disorder; rare reports of true IDincluding in a patient where both parents had ID, raising possibility of alternative cause. Downgrade to Amber.
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636 to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Gene: lrp5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Hyperostosis, endosteal, MIM# 144750; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875; van Buchem disease, type 2 607636
Intellectual disability syndromic and non-syndromic v0.2079 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Classified gene: LRP5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2078 LRP5 Zornitza Stark Gene: lrp5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2077 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4, MIM# 601813, Hyperostosis, endosteal, MIM# 144750, Osteopetrosis, autosomal dominant 1, MIM# 607634, Osteoporosis-pseudoglioma syndrome, MIM# 259770, Osteosclerosis, MIM# 144750, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875, van Buchem disease, type 2 607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1320 LNPK Zornitza Stark Marked gene: LNPK as ready
Mendeliome v0.1320 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1320 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Marked gene: LNPK as ready
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2077 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2076 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Mendeliome v0.1319 LNPK Zornitza Stark Publications for gene: LNPK were set to
Mendeliome v0.1318 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1317 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Mendeliome v0.1317 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2075 LNPK Zornitza Stark Publications for gene: LNPK were set to
Mendeliome v0.1316 LNPK Zornitza Stark reviewed gene: LNPK: Rating: AMBER; 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
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2074 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2073 LNPK Zornitza Stark reviewed gene: LNPK: Rating: AMBER; 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
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2073 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380
Intellectual disability syndromic and non-syndromic v0.2072 LMBRD1 Zornitza Stark Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2071 LMBRD1 Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Classified gene: LIPT2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2071 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2070 LIPT2 Zornitza Stark gene: LIPT2 was added
gene: LIPT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203
Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Review for gene: LIPT2 was set to AMBER
Added comment: Three individuals from two unrelated families; profound ID.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Gene: las1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2069 LAS1L Zornitza Stark Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Intellectual disability syndromic and non-syndromic v0.2068 LAS1L Zornitza Stark Publications for gene: LAS1L were set to
Intellectual disability syndromic and non-syndromic v0.2067 LAS1L Zornitza Stark reviewed gene: LAS1L: Rating: ; Mode of pathogenicity: None; Publications: 25644381, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: None
Mendeliome v0.1316 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Mendeliome v0.1316 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Mendeliome v0.1316 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923
Mendeliome v0.1315 KIF4A Zornitza Stark Publications for gene: KIF4A were set to
Intellectual disability syndromic and non-syndromic v0.2067 KIF4A Zornitza Stark Phenotypes for gene: KIF4A were changed from to Mental retardation, X-linked 100, MIM# 300923
Mendeliome v0.1314 KIF4A Zornitza Stark Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1313 KIF4A Zornitza Stark Classified gene: KIF4A as Red List (low evidence)
Mendeliome v0.1313 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2066 KIF4A Zornitza Stark Publications for gene: KIF4A were set to
Mendeliome v0.1312 KIF4A Zornitza Stark reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2066 KIF4A Zornitza Stark Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2065 KIF4A Zornitza Stark Classified gene: KIF4A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2065 KIF4A Zornitza Stark Gene: kif4a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF4A Zornitza Stark reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: None; Publications: 24812067; Phenotypes: Mental retardation, X-linked 100, MIM# 300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Marked gene: KIF2A as ready
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2064 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2063 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282
Phenotypes for gene: KIF2A were set to Cortical dysplasia, complex, with other brain malformations 3, 615411
Review for gene: KIF2A was set to GREEN
gene: KIF2A was marked as current diagnostic
Added comment: Five unrelated individuals reported.
Sources: Expert list
Genetic Epilepsy v0.603 KCNK4 Zornitza Stark Marked gene: KCNK4 as ready
Genetic Epilepsy v0.603 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Marked gene: KCNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Classified gene: KCNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2062 KCNT2 Zornitza Stark Gene: kcnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2061 KCNT2 Zornitza Stark gene: KCNT2 was added
gene: KCNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNT2 were set to 29069600; 29740868
Phenotypes for gene: KCNT2 were set to Epileptic encephalopathy, early infantile 57, 617771
Mode of pathogenicity for gene: KCNT2 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: KCNT2 was set to GREEN
gene: KCNT2 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Genetic Epilepsy v0.603 KCNK4 Zornitza Stark Phenotypes for gene: KCNK4 were changed from to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381
Genetic Epilepsy v0.602 KCNK4 Zornitza Stark Publications for gene: KCNK4 were set to
Genetic Epilepsy v0.601 KCNK4 Zornitza Stark Mode of pathogenicity for gene: KCNK4 was changed from to Other
Genetic Epilepsy v0.601 KCNK4 Zornitza Stark Mode of inheritance for gene: KCNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.600 KCNK4 Zornitza Stark reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1312 KCNK4 Zornitza Stark Marked gene: KCNK4 as ready
Mendeliome v0.1312 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Mendeliome v0.1312 KCNK4 Zornitza Stark Phenotypes for gene: KCNK4 were changed from to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381
Mendeliome v0.1311 KCNK4 Zornitza Stark Publications for gene: KCNK4 were set to
Mendeliome v0.1310 KCNK4 Zornitza Stark Mode of pathogenicity for gene: KCNK4 was changed from to Other
Mendeliome v0.1309 KCNK4 Zornitza Stark Mode of inheritance for gene: KCNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Marked gene: KCNK4 as ready
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Mendeliome v0.1308 KCNK4 Zornitza Stark reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Classified gene: KCNK4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2060 KCNK4 Zornitza Stark Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2059 KCNK4 Zornitza Stark gene: KCNK4 was added
gene: KCNK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381
Mode of pathogenicity for gene: KCNK4 was set to Other
Review for gene: KCNK4 was set to GREEN
Added comment: Three unrelated individuals reported with a distinctive syndromic ID condition and de novo variants (two of the individuals had the same variant). Likely GoF as KO mice do not share the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2058 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2057 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Marked gene: KATNAL2 as ready
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from to Autism
Autism v0.63 KATNAL2 Zornitza Stark Marked gene: KATNAL2 as ready
Autism v0.63 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Green List (High Evidence).
Autism v0.63 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from Autism to Autism
Intellectual disability syndromic and non-syndromic v0.2057 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to 22495311; 21572417; 22495309; 22495306
Autism v0.63 KATNAL2 Zornitza Stark Phenotypes for gene: KATNAL2 were changed from to Autism
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to
Intellectual disability syndromic and non-syndromic v0.2056 KATNAL2 Zornitza Stark Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.62 KATNAL2 Zornitza Stark Publications for gene: KATNAL2 were set to
Intellectual disability syndromic and non-syndromic v0.2055 KATNAL2 Zornitza Stark Classified gene: KATNAL2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2055 KATNAL2 Zornitza Stark Gene: katnal2 has been classified as Red List (Low Evidence).
Autism v0.61 KATNAL2 Zornitza Stark Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.60 KATNAL2 Zornitza Stark reviewed gene: KATNAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2054 KATNAL2 Zornitza Stark reviewed gene: KATNAL2: Rating: RED; Mode of pathogenicity: None; Publications: 22495311, 21572417, 22495309, 22495306; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2054 ITGA7 Zornitza Stark Publications for gene: ITGA7 were set to
Intellectual disability syndromic and non-syndromic v0.2053 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Intellectual disability syndromic and non-syndromic v0.2052 ITGA7 Zornitza Stark Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Classified gene: ITGA7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2051 ITGA7 Zornitza Stark Gene: itga7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2050 ITGA7 Zornitza Stark reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2050 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Intellectual disability syndromic and non-syndromic v0.2049 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Intellectual disability syndromic and non-syndromic v0.2048 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2047 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 31279336, 31106229; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1308 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Mendeliome v0.1308 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Mendeliome v0.1308 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Mendeliome v0.1307 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Mendeliome v0.1306 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1305 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Mendeliome v0.1305 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Mendeliome v0.1304 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.15 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.15 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.15 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Cerebellar and Pontocerebellar Hypoplasia v0.14 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.13 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.12 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.12 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.11 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.19 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Polymicrogyria and Schizencephaly v0.19 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.19 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Polymicrogyria and Schizencephaly v0.18 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Polymicrogyria and Schizencephaly v0.18 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Polymicrogyria and Schizencephaly v0.17 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.17 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.17 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.16 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2047 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Intellectual disability syndromic and non-syndromic v0.2046 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Intellectual disability syndromic and non-syndromic v0.2045 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2044 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2044 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2043 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.16 ZFYVE26 Bryony Thompson Classified gene: ZFYVE26 as Green List (high evidence)
Retinitis pigmentosa v0.16 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.15 ZFYVE26 Bryony Thompson reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394578, 14409555; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.15 SLC7A14 Bryony Thompson Classified gene: SLC7A14 as Red List (low evidence)
Retinitis pigmentosa v0.15 SLC7A14 Bryony Thompson Added comment: Comment on list classification: The animal models are compelling, but there currently is limited evidence in humans.
Retinitis pigmentosa v0.15 SLC7A14 Bryony Thompson Gene: slc7a14 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.14 SLC7A14 Bryony Thompson reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: None; Publications: 31921845, 30924391, 24670872; Phenotypes: Retinitis pigmentosa 68 MIM#615725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.14 SAMD11 Bryony Thompson Classified gene: SAMD11 as Red List (low evidence)
Retinitis pigmentosa v0.14 SAMD11 Bryony Thompson Added comment: Comment on list classification: Same variant in two families from the same region
Retinitis pigmentosa v0.14 SAMD11 Bryony Thompson Gene: samd11 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.13 SAMD11 Bryony Thompson reviewed gene: SAMD11: Rating: RED; Mode of pathogenicity: None; Publications: 27734943; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.13 ADIPOR1 Bryony Thompson Classified gene: ADIPOR1 as Amber List (moderate evidence)
Retinitis pigmentosa v0.13 ADIPOR1 Bryony Thompson Added comment: Comment on list classification: Additional cases required to validate the association and confirm the inheritance patterns.
Retinitis pigmentosa v0.13 ADIPOR1 Bryony Thompson Gene: adipor1 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.12 ADIPOR1 Bryony Thompson reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26662040, 25736573, 30254279, 27655171; Phenotypes: Syndromic retinitis pigmentosa, non-syndromic retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dyslipidaemia v0.1 Bryony Thompson Panel name changed from Hyperlipidaemia_RMH to Hyperlipidaemia
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Retinitis pigmentosa v0.12 PMPCA Bryony Thompson reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2 MIM#213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.12 ZNF513 Bryony Thompson Classified gene: ZNF513 as Amber List (moderate evidence)
Retinitis pigmentosa v0.12 ZNF513 Bryony Thompson Gene: znf513 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.11 ZNF513 Bryony Thompson reviewed gene: ZNF513: Rating: AMBER; Mode of pathogenicity: None; Publications: 20797688; Phenotypes: ?Retinitis pigmentosa 58 MIM#613617; Mode of inheritance: None
Retinitis pigmentosa v0.11 NEK2 Bryony Thompson reviewed gene: NEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24043777; Phenotypes: ?Retinitis pigmentosa 67 MIM#615565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.11 AHR Bryony Thompson Classified gene: AHR as Amber List (moderate evidence)
Retinitis pigmentosa v0.11 AHR Bryony Thompson Gene: ahr has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.10 AHR Bryony Thompson reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726989; Phenotypes: ?Retinitis pigmentosa 85 MIM#618345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.10 ADGRA3 Bryony Thompson reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: None; Publications: 23105016; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.10 EMC1 Bryony Thompson reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29271071; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.10 SCAPER Bryony Thompson Classified gene: SCAPER as Green List (high evidence)
Retinitis pigmentosa v0.10 SCAPER Bryony Thompson Gene: scaper has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.9 SCAPER Bryony Thompson gene: SCAPER was added
gene: SCAPER was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Review for gene: SCAPER was set to GREEN
Added comment: Sources: Expert list
Retinitis pigmentosa v0.7 EXOSC2 Bryony Thompson Classified gene: EXOSC2 as Green List (high evidence)
Retinitis pigmentosa v0.7 EXOSC2 Bryony Thompson Gene: exosc2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.6 EXOSC2 Bryony Thompson gene: EXOSC2 was added
gene: EXOSC2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 26843489; 31628467
Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies MIM#617763
Review for gene: EXOSC2 was set to GREEN
Added comment: 3 patients from 2 unrelated German families with homozygous or compound heterozygous mutations (G30V, G198D), segregated with the disorder in both families. Drosophila model showed the gene is critical for eye development, and was rescued by the normal protein.
Sources: Expert list
Retinitis pigmentosa v0.5 CACNA1F Bryony Thompson Classified gene: CACNA1F as Green List (high evidence)
Retinitis pigmentosa v0.5 CACNA1F Bryony Thompson Gene: cacna1f has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.4 CACNA1F Bryony Thompson gene: CACNA1F was added
gene: CACNA1F was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CACNA1F were set to 26075273; 25999675
Phenotypes for gene: CACNA1F were set to X-linked retinitis pigmentosa
Review for gene: CACNA1F was set to GREEN
Added comment: Hemizygous variants mainly cause congenital stationary night blindness, cone-rod dystrophy, and Aland Island eye disease. At least 3 unrelated cases/families reported with RP.
Sources: Expert list
Retinitis pigmentosa v0.3 Bryony Thompson Panel name changed from Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH to Autosomal Recessive/X-Linked Retinitis Pigmentosa
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Proteinuria v0.106 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Syndromic Retinopathy v0.5 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Syndromic Retinopathy v0.4 HARS Bryony Thompson Classified gene: HARS as Red List (low evidence)
Syndromic Retinopathy v0.4 HARS Bryony Thompson Gene: hars has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital
Syndromic Retinopathy v0.0 TIMM8A Bryony Thompson gene: TIMM8A was added
gene: TIMM8A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TIMM8A was set to Unknown
Syndromic Retinopathy v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209; Joubert syndrome 10, 300804
Syndromic Retinopathy v0.0 ZNF423 Bryony Thompson gene: ZNF423 was added
gene: ZNF423 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: WFS1 was set to Unknown
Syndromic Retinopathy v0.0 WDR19 Bryony Thompson gene: WDR19 was added
gene: WDR19 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 WDPCP Bryony Thompson gene: WDPCP was added
gene: WDPCP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 TUBGCP6 Bryony Thompson gene: TUBGCP6 was added
gene: TUBGCP6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TUBGCP6 was set to Unknown
Syndromic Retinopathy v0.0 TUBGCP4 Bryony Thompson gene: TUBGCP4 was added
gene: TUBGCP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Syndromic Retinopathy v0.0 TUB Bryony Thompson gene: TUB was added
gene: TUB was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TTPA was set to Unknown
Syndromic Retinopathy v0.0 TRNT1 Bryony Thompson gene: TRNT1 was added
gene: TRNT1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis
Syndromic Retinopathy v0.0 TMEM237 Bryony Thompson gene: TMEM237 was added
gene: TMEM237 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 TMEM216 Bryony Thompson gene: TMEM216 was added
gene: TMEM216 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TMEM216 was set to Unknown
Syndromic Retinopathy v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: SLC25A46 was set to Unknown
Syndromic Retinopathy v0.0 SDCCAG8 Bryony Thompson gene: SDCCAG8 was added
gene: SDCCAG8 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 RPGRIP1L Bryony Thompson gene: RPGRIP1L was added
gene: RPGRIP1L was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5; Joubert syndrome 7; COACH syndrome
Syndromic Retinopathy v0.0 RDH11 Bryony Thompson gene: RDH11 was added
gene: RDH11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: RDH11 was set to Unknown
Syndromic Retinopathy v0.0 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Syndromic Retinopathy v0.0 POC1B Bryony Thompson gene: POC1B was added
gene: POC1B was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20, 615973
Syndromic Retinopathy v0.0 POC5 Bryony Thompson gene: POC5 was added
gene: POC5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: POC5 was set to Unknown
Syndromic Retinopathy v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PNPLA6 was set to Unknown
Syndromic Retinopathy v0.0 PLK4 Bryony Thompson gene: PLK4 was added
gene: PLK4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PLK4 was set to Unknown
Syndromic Retinopathy v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Syndromic Retinopathy v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease
Syndromic Retinopathy v0.0 PEX2 Bryony Thompson gene: PEX2 was added
gene: PEX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580
Syndromic Retinopathy v0.0 PCYT1A Bryony Thompson gene: PCYT1A was added
gene: PCYT1A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Syndromic Retinopathy v0.0 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to HARP syndrome; Neurodegeneration with brain iron accumulation 1
Syndromic Retinopathy v0.0 NPHP4 Bryony Thompson gene: NPHP4 was added
gene: NPHP4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 NPHP3 Bryony Thompson gene: NPHP3 was added
gene: NPHP3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 NPHP1 Bryony Thompson gene: NPHP1 was added
gene: NPHP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: MTTP was set to Unknown
Syndromic Retinopathy v0.0 MKS1 Bryony Thompson gene: MKS1 was added
gene: MKS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 LRP5 Bryony Thompson gene: LRP5 was added
gene: LRP5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4
Syndromic Retinopathy v0.0 LAMA1 Bryony Thompson gene: LAMA1 was added
gene: LAMA1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: LAMA1 was set to Unknown
Syndromic Retinopathy v0.0 IQCB1 Bryony Thompson gene: IQCB1 was added
gene: IQCB1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)
Syndromic Retinopathy v0.0 INVS Bryony Thompson gene: INVS was added
gene: INVS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile
Syndromic Retinopathy v0.0 INPP5E Bryony Thompson gene: INPP5E was added
gene: INPP5E was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 IFT81 Bryony Thompson gene: IFT81 was added
gene: IFT81 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IFT81 was set to Unknown
Syndromic Retinopathy v0.0 IFT140 Bryony Thompson gene: IFT140 was added
gene: IFT140 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Retinitis pigmentosa 80
Syndromic Retinopathy v0.0 HMX1 Bryony Thompson gene: HMX1 was added
gene: HMX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 HGSNAT Bryony Thompson gene: HGSNAT was added
gene: HGSNAT was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Retinitis pigmentosa 73
Syndromic Retinopathy v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Syndromic Retinopathy v0.0 GNPTG Bryony Thompson gene: GNPTG was added
gene: GNPTG was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma; Genetic Retinal Degeneration Conditions
Syndromic Retinopathy v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033
Syndromic Retinopathy v0.0 EXOSC2 Bryony Thompson gene: EXOSC2 was added
gene: EXOSC2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: EXOSC2 was set to Unknown
Syndromic Retinopathy v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Syndromic Retinopathy v0.0 CSPP1 Bryony Thompson gene: CSPP1 was added
gene: CSPP1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21
Syndromic Retinopathy v0.0 COL9A1 Bryony Thompson gene: COL9A1 was added
gene: COL9A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV
Syndromic Retinopathy v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Juvenile neuronal ceroid lipofuscinosis; Retinitis pigmentosa
Syndromic Retinopathy v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Meckel syndrome 4, 611134; Senior-Loken syndrome 6, 610189; Bardet-Biedl syndrome 14, 209900; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188
Syndromic Retinopathy v0.0 CEP164 Bryony Thompson gene: CEP164 was added
gene: CEP164 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 CC2D2A Bryony Thompson gene: CC2D2A was added
gene: CC2D2A was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; Meckel syndrome 6; COACH syndrome
Syndromic Retinopathy v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Syndromic Retinopathy v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 17
Syndromic Retinopathy v0.0 ADIPOR1 Bryony Thompson gene: ADIPOR1 was added
gene: ADIPOR1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa
Syndromic Retinopathy v0.0 ADAMTS18 Bryony Thompson gene: ADAMTS18 was added
gene: ADAMTS18 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions
Syndromic Retinopathy v0.0 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559
Syndromic Retinopathy v0.0 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ACBD5 was set to Unknown
Syndromic Retinopathy v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Syndromic Retinopathy v0.0 VCAN Bryony Thompson gene: VCAN was added
gene: VCAN was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VCAN were set to Wagner Syndrome
Syndromic Retinopathy v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: TREX1 was set to Unknown
Syndromic Retinopathy v0.0 PAX2 Bryony Thompson gene: PAX2 was added
gene: PAX2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: PAX2 was set to Unknown
Syndromic Retinopathy v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OPA3 were set to Autosomal Dominant Optic Atrophy
Syndromic Retinopathy v0.0 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: MFN2 was set to Unknown
Syndromic Retinopathy v0.0 KIF11 Bryony Thompson gene: KIF11 was added
gene: KIF11 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM#152950
Syndromic Retinopathy v0.0 KCNJ13 Bryony Thompson gene: KCNJ13 was added
gene: KCNJ13 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: KCNJ13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230
Syndromic Retinopathy v0.0 JAG1 Bryony Thompson gene: JAG1 was added
gene: JAG1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: JAG1 was set to Unknown
Syndromic Retinopathy v0.0 COL2A1 Bryony Thompson gene: COL2A1 was added
gene: COL2A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL2A1 were set to Stickler syndrome, type I
Syndromic Retinopathy v0.0 COL11A1 Bryony Thompson gene: COL11A1 was added
gene: COL11A1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II, MIM#604841
Syndromic Retinopathy v0.0 ATXN7 Bryony Thompson gene: ATXN7 was added
gene: ATXN7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ATXN7 was set to Unknown
Syndromic Retinopathy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: AFG3L2 was set to Unknown
Syndromic Retinopathy v0.0 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: ABCC6 was set to Unknown
Syndromic Retinopathy v0.0 Bryony Thompson Added panel Syndromic Retinopathy
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Marked gene: INSR as ready
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2043 INSR Zornitza Stark Phenotypes for gene: INSR were changed from to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Intellectual disability syndromic and non-syndromic v0.2042 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2041 INSR Zornitza Stark Classified gene: INSR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2041 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2040 INSR Zornitza Stark reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2040 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Intellectual disability, autosomal recessive 13 (MIM# 613192)
Intellectual disability syndromic and non-syndromic v0.2039 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Intellectual disability syndromic and non-syndromic v0.2039 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v0.22 PKD2 Zornitza Stark Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2, MIM#613095 AD to Polycystic kidney disease 2, MIM#613095 AD
Renal Macrocystic Disease v0.21 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Renal Macrocystic Disease v0.21 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.21 PKD2 Zornitza Stark Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM#613095 AD
Renal Macrocystic Disease v0.20 PKD2 Zornitza Stark Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome v0.6 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Brugada syndrome v0.6 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Brugada syndrome v0.6 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1; {Sudden infant death syndrome, susceptibility to}
Brugada syndrome v0.6 SCN5A Zornitza Stark Publications for gene: SCN5A were set to
Brugada syndrome v0.5 SCN5A Zornitza Stark Mode of pathogenicity for gene: SCN5A was changed from to Other
Brugada syndrome v0.5 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1304 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Mendeliome v0.1304 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Mendeliome v0.1304 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; Charcot-Marie-Tooth type 4; Cerebellar ataxia and progressive peripheral axonal neuropthy
Mendeliome v0.1303 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Mendeliome v0.1302 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1301 IDUA Zornitza Stark Marked gene: IDUA as ready
Mendeliome v0.1301 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Mendeliome v0.1301 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070)
Mendeliome v0.1300 IDUA Zornitza Stark Publications for gene: IDUA were set to
Mendeliome v0.1299 IDUA Zornitza Stark Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1298 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Mendeliome v0.1298 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Mendeliome v0.1298 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM#608629
Mendeliome v0.1297 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Mendeliome v0.1296 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.19 TGM5 Zornitza Stark Marked gene: TGM5 as ready
Epidermolysis bullosa v0.19 TGM5 Zornitza Stark Gene: tgm5 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.19 TGM5 Zornitza Stark Phenotypes for gene: TGM5 were changed from to Peeling skin syndrome 2, MIM# 609796
Epidermolysis bullosa v0.18 TGM5 Zornitza Stark Publications for gene: TGM5 were set to
Epidermolysis bullosa v0.17 TGM5 Zornitza Stark Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.16 TGM5 Zornitza Stark reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380904; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1295 TGM5 Zornitza Stark Marked gene: TGM5 as ready
Mendeliome v0.1295 TGM5 Zornitza Stark Gene: tgm5 has been classified as Green List (High Evidence).
Mendeliome v0.1295 TGM5 Zornitza Stark Phenotypes for gene: TGM5 were changed from to Peeling skin syndrome 2, MIM# 609796
Mendeliome v0.1294 TGM5 Zornitza Stark Publications for gene: TGM5 were set to
Mendeliome v0.1293 TGM5 Zornitza Stark Mode of inheritance for gene: TGM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1292 PLEC Zornitza Stark Marked gene: PLEC as ready
Mendeliome v0.1292 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Mendeliome v0.1292 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from to ?Epidermolysis bullosa simplex with nail dystrophy, MIM# 616487; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Renal Macrocystic Disease v0.19 PKD2 Michelle Torres reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11854751; Phenotypes: Polycystic kidney disease 2 (613095 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1291 PLEC Zornitza Stark Publications for gene: PLEC were set to
Mendeliome v0.1290 PLEC Zornitza Stark Mode of inheritance for gene: PLEC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brugada syndrome v0.4 SCN5A Elena Savva reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29806494, 18929244; Phenotypes: Atrial fibrillation, familial, 10, Brugada syndrome 1, Cardiomyopathy, dilated, 1E, Heart block, nonprogressive, Heart block, progressive, type IA, Long QT syndrome 3, Sick sinus syndrome 1, Ventricular fibrillation, familial, 1, {Sudden infant death syndrome, susceptibility to}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.60 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Autism v0.60 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Autism v0.60 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from to Autism
Autism v0.59 CUL3 Zornitza Stark Publications for gene: CUL3 were set to
Autism v0.58 CUL3 Zornitza Stark Mode of inheritance for gene: CUL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.57 CUL3 Zornitza Stark reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495309, 22914163, 25363760, 27824329; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1289 SCO2 Elena Savva reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31844624, 29351582, 26427993; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Myopia 6, Charcot-Marie-Tooth type 4, Cerebellar ataxia and progressive peripheral axonal neuropthy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1289 IDUA Crystle Lee reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28752568, 12865757; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1289 AHI1 Elena Savva commented on gene: AHI1: Functional assays using zebrafish model support that the C-terminal SH3 domain is not required (PMID: 25616960)
Mendeliome v0.1289 AHI1 Elena Savva reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25616960; Phenotypes: Joubert syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v0.12 FAN1 Zornitza Stark Classified gene: FAN1 as Green List (high evidence)
Renal Tubulointerstitial Disease v0.12 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.11 FAN1 Zornitza Stark Marked gene: FAN1 as ready
Renal Tubulointerstitial Disease v0.11 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.11 FAN1 Zornitza Stark Classified gene: FAN1 as Green List (high evidence)
Renal Tubulointerstitial Disease v0.11 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Mendeliome v0.1289 TGM5 Elena Savva reviewed gene: TGM5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16380904; Phenotypes: Peeling skin syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v0.10 FAN1 Zornitza Stark gene: FAN1 was added
gene: FAN1 was added to Renal Tubulointerstitial Disease. Sources: Expert Review
Mode of inheritance for gene: FAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic, MIM# 614817
Review for gene: FAN1 was set to GREEN
Added comment: Phenotypic overlap.
Sources: Expert Review
Mendeliome v0.1289 PLEC Elena Savva reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22144912; Phenotypes: ?Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy, limb-girdle; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence)
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence)
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Hypertension and Aldosterone disorders v0.7 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert Review
Mode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP11B1 were set to 1731223; 29703198
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM# 103900
Review for gene: CYP11B1 was set to AMBER
Added comment: Chimeric protein caused by structural rearrangement. Bi-allelic variants cause CAH.
Sources: Expert Review
Mendeliome v0.1289 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Mendeliome v0.1289 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Mendeliome v0.1289 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1
Mendeliome v0.1288 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Mendeliome v0.1287 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1286 BEST1 Zornitza Stark Marked gene: BEST1 as ready
Mendeliome v0.1286 BEST1 Zornitza Stark Gene: best1 has been classified as Green List (High Evidence).
Mendeliome v0.1286 BEST1 Zornitza Stark Mode of pathogenicity for gene: BEST1 was changed from to Other
Mendeliome v0.1285 WNT10A Elena Savva reviewed gene: WNT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19559398, 30426266; Phenotypes: Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective, 4; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1285 BEST1 Zornitza Stark Publications for gene: BEST1 were set to
Mendeliome v0.1284 BEST1 Zornitza Stark Phenotypes for gene: BEST1 were changed from to Bestrophinopathy, autosomal recessive, MIM# 611809; Macular dystrophy, vitelliform, 2 MIM# 153700; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM# 193220; Retinitis pigmentosa-50, MIM# 613194; Retinitis pigmentosa, concentric, MIM# 61319; Vitreoretinochoroidopathy,MIM# 193220
Mendeliome v0.1283 BEST1 Zornitza Stark Mode of inheritance for gene: BEST1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.78 IGBP1 Zornitza Stark Marked gene: IGBP1 as ready
Callosome v0.78 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Callosome v0.78 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Callosome v0.77 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Callosome v0.76 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Callosome v0.76 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Callosome v0.75 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1282 IGBP1 Zornitza Stark Marked gene: IGBP1 as ready
Mendeliome v0.1282 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2038 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Marked gene: IGBP1 as ready
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.1282 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Mendeliome v0.1281 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to 14556245
Mendeliome v0.1280 IGBP1 Zornitza Stark Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1279 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Mendeliome v0.1279 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2037 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Mendeliome v0.1278 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Mode of inheritance for gene: IGBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2036 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2035 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1278 BEST1 Elena Savva reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29668979; Phenotypes: Bestrophinopathy, Macular dystrophy, vitelliform, 2, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa-50, Retinitis pigmentosa, concentric, Vitreoretinochoroidopathy; Mode of inheritance: None
Mendeliome v0.1278 HSPG2 Elena Savva reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16927315; Phenotypes: Dyssegmental dysplasia, Silverman-Handmaker type, Schwartz-Jampel syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2035 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78, MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1278 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Mendeliome v0.1278 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Mendeliome v0.1278 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Mendeliome v0.1277 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM#309530
Mendeliome v0.1276 IQSEC2 Zornitza Stark Mode of pathogenicity for gene: IQSEC2 was changed from to Other
Mendeliome v0.1275 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Marked gene: HTT as ready
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Gene: htt has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Classified gene: HTT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2035 HTT Zornitza Stark Gene: htt has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2034 HTT Zornitza Stark gene: HTT was added
gene: HTT was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: HTT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTT were set to 26740508; 27329733
Phenotypes for gene: HTT were set to Lopes-Maciel-Rodan syndrome, 617435; LOMARS; Intellectual disability
Review for gene: HTT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants in this gene and a neurodevelopmental phenotype.
Sources: Expert list
Mendeliome v0.1274 IQSEC2 Elena Savva reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31415821, 20473311, 30842726; Phenotypes: Mental retardation, X-linked 1/78; 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
Hypertension and Aldosterone disorders v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Intellectual disability syndromic and non-syndromic v0.2033 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Growth delay, microcephaly and intellectual disability
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Marked gene: HIST1H4C as ready
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from to Growth delay, microcephaly and intellectual disability
Intellectual disability syndromic and non-syndromic v0.2032 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to 28920961
Intellectual disability syndromic and non-syndromic v0.2031 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to
Intellectual disability syndromic and non-syndromic v0.2031 HIST1H4C Zornitza Stark Mode of inheritance for gene: HIST1H4C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2030 HIST1H4C Zornitza Stark Classified gene: HIST1H4C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2030 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2029 HIST1H4C Zornitza Stark reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: None; Publications: 28920961; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2029 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, MIM# 615516 to Mental retardation, autosomal recessive 38, MIM# 615516
Intellectual disability syndromic and non-syndromic v0.2028 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2027 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38, MIM# 615516
Intellectual disability syndromic and non-syndromic v0.2027 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Intellectual disability syndromic and non-syndromic v0.2026 HERC2 Zornitza Stark Classified gene: HERC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2026 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2025 HERC2 Zornitza Stark Classified gene: HERC2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2025 HERC2 Zornitza Stark Gene: herc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2024 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23243086, 23065719; Phenotypes: Mental retardation, autosomal recessive 38 615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Gene: hax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2024 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2023 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738
Intellectual disability syndromic and non-syndromic v0.2023 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2022 HAX1 Zornitza Stark Classified gene: HAX1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2022 HAX1 Zornitza Stark Gene: hax1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2021 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2021 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2020 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Intellectual disability syndromic and non-syndromic v0.2020 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Intellectual disability syndromic and non-syndromic v0.2019 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2018 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2018 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2017 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2017 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.2016 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures
Intellectual disability syndromic and non-syndromic v0.2015 GTF3C3 Zornitza Stark Publications for gene: GTF3C3 were set to
Intellectual disability syndromic and non-syndromic v0.2014 GTF3C3 Zornitza Stark Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2013 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2013 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MIM#152950
Intellectual disability syndromic and non-syndromic v0.2012 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Intellectual disability syndromic and non-syndromic v0.2012 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Marked gene: GSS as ready
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2011 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, MIM# 266130 to Glutathione synthetase deficiency, MIM# 266130
Intellectual disability syndromic and non-syndromic v0.2010 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Intellectual disability syndromic and non-syndromic v0.2009 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2008 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
Genetic Epilepsy v0.600 GRIN2D Zornitza Stark Marked gene: GRIN2D as ready
Genetic Epilepsy v0.600 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.600 GRIN2D Zornitza Stark Phenotypes for gene: GRIN2D were changed from to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability
Genetic Epilepsy v0.599 GRIN2D Zornitza Stark Publications for gene: GRIN2D were set to
Genetic Epilepsy v0.598 GRIN2D Zornitza Stark Mode of pathogenicity for gene: GRIN2D was changed from to Other
Genetic Epilepsy v0.597 GRIN2D Zornitza Stark Mode of inheritance for gene: GRIN2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.596 GRIN2D Zornitza Stark reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483, 30280376; Phenotypes: Epileptic encephalopathy, early infantile, 46, MIM# 617162, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Marked gene: GRIN2D as ready
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Classified gene: GRIN2D as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2008 GRIN2D Zornitza Stark Gene: grin2d has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2007 GRIN2D Zornitza Stark gene: GRIN2D was added
gene: GRIN2D was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2D were set to 27616483; 30280376
Phenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability
Mode of pathogenicity for gene: GRIN2D was set to Other
Review for gene: GRIN2D was set to GREEN
gene: GRIN2D was marked as current diagnostic
Added comment: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2006 KIF11 Ee Ming Wong reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27212378, 24281367; Phenotypes: 1. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (OMIM), 2. Familial exudative vitreoretinopathy (FEVR) (PMID: 27212378); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1274 GRIA1 Zornitza Stark Marked gene: GRIA1 as ready
Mendeliome v0.1274 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Mendeliome v0.1274 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Mendeliome v0.1274 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Mendeliome v0.1273 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Phenotypes for gene: GRIA1 were set to Intellectual disability; autism
Review for gene: GRIA1 was set to GREEN
Added comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Marked gene: GRIA1 as ready
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2006 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2005 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
Phenotypes for gene: GRIA1 were set to Intellectual disability; autism
Review for gene: GRIA1 was set to GREEN
Added comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant.
Sources: Expert list
Vasculitis v0.8 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Intellectual disability syndromic and non-syndromic v0.2004 GPHN Zornitza Stark Publications for gene: GPHN were set to
Intellectual disability syndromic and non-syndromic v0.2003 GPHN Zornitza Stark Classified gene: GPHN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2003 GPHN Zornitza Stark Gene: gphn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2002 GPHN Zornitza Stark Tag SV/CNV tag was added to gene: GPHN.
Intellectual disability syndromic and non-syndromic v0.2002 GPHN Zornitza Stark edited their review of gene: GPHN: Added comment: Only two families reported with bi-allelic variants. Also note reports of mono-allelic deletions associated with ID/autism/SZ.; Changed rating: AMBER; Changed publications: 22040219, 26613940, 24561070, 23393157; Changed phenotypes: Molybdenum cofactor deficiency C, MIM#615501, intellectual disability; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2002 GORAB Zornitza Stark Classified gene: GORAB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2002 GORAB Zornitza Stark Gene: gorab has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2001 GORAB Zornitza Stark edited their review of gene: GORAB: Added comment: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.2001 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Progressive Myoclonic Epilepsy v0.6 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Red List (low evidence)
Progressive Myoclonic Epilepsy v0.6 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Red List (Low Evidence).
Hypercalcaemia v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Hypercalcaemia v0.7 MEN1 Bryony Thompson Classified gene: MEN1 as Green List (high evidence)
Hypercalcaemia v0.7 MEN1 Bryony Thompson Added comment: Comment on list classification: Gene requested by endocrinologists at RMH to be on this panel
Hypercalcaemia v0.7 MEN1 Bryony Thompson Gene: men1 has been classified as Green List (High Evidence).
Hypercalcaemia v0.6 MEN1 Bryony Thompson gene: MEN1 was added
gene: MEN1 was added to Hypercalcaemia. Sources: Expert list
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MEN1 were set to 31797261; 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Review for gene: MEN1 was set to GREEN
Added comment: Hypercalcaemia is a prominent feature of familial hyperparathyroidism that has been caused by MEN1 in at least 5 cases.
Sources: Expert list
Leukodystrophy v0.50 Bryony Thompson Panel name changed from Leukodystrophy - paediatric_RMH to Leukodystrophy - paediatric
Ataxia v0.48 Bryony Thompson Panel name changed from Ataxia - paediatric_RMH to Ataxia - paediatric
Panel types changed to Royal Melbourne Hospital; Rare Disease
Intellectual disability syndromic and non-syndromic v0.2001 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Intellectual disability syndromic and non-syndromic v0.2001 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1272 RCC1L Zornitza Stark Marked gene: RCC1L as ready
Mendeliome v0.1272 RCC1L Zornitza Stark Gene: rcc1l has been classified as Red List (Low Evidence).
Mendeliome v0.1272 RCC1L Zornitza Stark Classified gene: RCC1L as Red List (low evidence)
Mendeliome v0.1272 RCC1L Zornitza Stark Gene: rcc1l has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.596 VPS13A Zornitza Stark Marked gene: VPS13A as ready
Genetic Epilepsy v0.596 VPS13A Zornitza Stark Gene: vps13a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.596 VPS13A Zornitza Stark Classified gene: VPS13A as Green List (high evidence)
Genetic Epilepsy v0.596 VPS13A Zornitza Stark Gene: vps13a has been classified as Green List (High Evidence).
Early-onset Dementia v0.40 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Royal Melbourne Hospital; Rare Disease
Early-onset Dementia v0.38 PINK1 Bryony Thompson Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.37 PRKN Bryony Thompson Marked gene: PRKN as ready
Early-onset Dementia v0.37 PRKN Bryony Thompson Gene: prkn has been classified as Green List (High Evidence).
Early-onset Dementia v0.37 PRKN Bryony Thompson Phenotypes for gene: PRKN were changed from to Parkinson disease, juvenile, type 2 MIM#600116
Early-onset Dementia v0.36 PRKN Bryony Thompson Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.35 SPG11 Bryony Thompson Phenotypes for gene: SPG11 were changed from to Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099
Early-onset Dementia v0.34 SPG11 Bryony Thompson Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.33 VPS13A Bryony Thompson Phenotypes for gene: VPS13A were changed from to Choreoacanthocytosis MIM#200150
Early-onset Dementia v0.33 VPS13A Bryony Thompson Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.32 VPS35 Bryony Thompson Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.31 VPS35 Bryony Thompson Phenotypes for gene: VPS35 were changed from to {Parkinson disease 17} MIM#614203; Cognitive decline
Early-onset Dementia v0.30 VAPB Bryony Thompson Phenotypes for gene: VAPB were changed from to Amyotrophic lateral sclerosis 8 MIM#608627; Spinal muscular atrophy, late-onset, Finkel type MIM#182980
Early-onset Dementia v0.29 MATR3 Bryony Thompson Marked gene: MATR3 as ready
Early-onset Dementia v0.29 MATR3 Bryony Thompson Gene: matr3 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.29 MATR3 Bryony Thompson Phenotypes for gene: MATR3 were changed from to Amyotrophic lateral sclerosis 21 MIM#606070
Early-onset Dementia v0.28 MATR3 Bryony Thompson Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.27 PARK7 Bryony Thompson Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.26 LRRK2 Bryony Thompson Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.25 TAF15 Bryony Thompson Classified gene: TAF15 as Amber List (moderate evidence)
Early-onset Dementia v0.25 TAF15 Bryony Thompson Gene: taf15 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.24 RNF216 Bryony Thompson Classified gene: RNF216 as Green List (high evidence)
Early-onset Dementia v0.24 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Early-onset Dementia v0.24 RNF216 Bryony Thompson Classified gene: RNF216 as Green List (high evidence)
Early-onset Dementia v0.24 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Early-onset Dementia v0.23 RNF216 Bryony Thompson Marked gene: RNF216 as ready
Early-onset Dementia v0.23 RNF216 Bryony Thompson Gene: rnf216 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.23 CP Bryony Thompson Classified gene: CP as Green List (high evidence)
Early-onset Dementia v0.23 CP Bryony Thompson Gene: cp has been classified as Green List (High Evidence).
Early-onset Dementia v0.22 MATR3 Bryony Thompson Classified gene: MATR3 as Amber List (moderate evidence)
Early-onset Dementia v0.22 MATR3 Bryony Thompson Gene: matr3 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.21 GCH1 Bryony Thompson Classified gene: GCH1 as Red List (low evidence)
Early-onset Dementia v0.21 GCH1 Bryony Thompson Gene: gch1 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.20 FIG4 Bryony Thompson Classified gene: FIG4 as Red List (low evidence)
Early-onset Dementia v0.20 FIG4 Bryony Thompson Added comment: Comment on list classification: ALS-FTD not a prominent phenotype
Early-onset Dementia v0.20 FIG4 Bryony Thompson Gene: fig4 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.19 ATP7B Bryony Thompson Marked gene: ATP7B as ready
Early-onset Dementia v0.19 ATP7B Bryony Thompson Gene: atp7b has been classified as Red List (Low Evidence).
Early-onset Dementia v0.19 ATP7B Bryony Thompson Classified gene: ATP7B as Red List (low evidence)
Early-onset Dementia v0.19 ATP7B Bryony Thompson Gene: atp7b has been classified as Red List (Low Evidence).
Early-onset Dementia v0.18 ANG Bryony Thompson Classified gene: ANG as Red List (low evidence)
Early-onset Dementia v0.18 ANG Bryony Thompson Added comment: Comment on list classification: Not a prominent ALS-FTD phenotype
Early-onset Dementia v0.18 ANG Bryony Thompson Gene: ang has been classified as Red List (Low Evidence).
Early-onset Dementia v0.17 WDR45 Bryony Thompson Classified gene: WDR45 as Green List (high evidence)
Early-onset Dementia v0.17 WDR45 Bryony Thompson Gene: wdr45 has been classified as Green List (High Evidence).
Early-onset Dementia v0.16 WDR45 Bryony Thompson changed review comment from: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature.
Sources: Expert list; to: De novo variants identified in 5 female cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature.
Sources: Expert list
Early-onset Dementia v0.16 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: WDR45 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: WDR45 were set to 23435086
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894
Review for gene: WDR45 was set to GREEN
Added comment: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature.
Sources: Expert list
Early-onset Dementia v0.15 VPS35 Bryony Thompson reviewed gene: VPS35: Rating: ; Mode of pathogenicity: None; Publications: 31686421, 22105352; Phenotypes: {Parkinson disease 17} MIM#614203; Mode of inheritance: None
Genetic Epilepsy v0.595 VPS13A Bryony Thompson changed review comment from: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases.
Sources: Literature; to: Epilepsy has been reported as a symptom at onset of the condition in at least 8 unrelated cases.
Sources: Literature
Genetic Epilepsy v0.595 VPS13A Bryony Thompson gene: VPS13A was added
gene: VPS13A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 26813249; 30140251; 31192303
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis MIM#200150
Review for gene: VPS13A was set to GREEN
Added comment: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases.
Sources: Literature
Early-onset Dementia v0.15 VPS13A Bryony Thompson reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26813249, 15824261, 30140251, 31192303; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.15 VAPB Bryony Thompson Classified gene: VAPB as Red List (low evidence)
Early-onset Dementia v0.15 VAPB Bryony Thompson Gene: vapb has been classified as Red List (Low Evidence).
Early-onset Dementia v0.14 VAPB Bryony Thompson reviewed gene: VAPB: Rating: RED; Mode of pathogenicity: None; Publications: 31873036, 31089860; Phenotypes: Amyotrophic lateral sclerosis 8 MIM#608627, Spinal muscular atrophy, late-onset, Finkel type MIM#182980; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.14 UCHL1 Bryony Thompson Classified gene: UCHL1 as Red List (low evidence)
Early-onset Dementia v0.14 UCHL1 Bryony Thompson Gene: uchl1 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.13 UCHL1 Bryony Thompson reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: 27231703, 15297154; Phenotypes: Spastic paraplegia 79, autosomal recessive MIM#615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.13 TH Bryony Thompson Classified gene: TH as Red List (low evidence)
Early-onset Dementia v0.13 TH Bryony Thompson Gene: th has been classified as Red List (Low Evidence).
Early-onset Dementia v0.12 TH Bryony Thompson reviewed gene: TH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.12 TAF15 Bryony Thompson gene: TAF15 was added
gene: TAF15 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAF15 were set to 28889094
Phenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis; Frontotemporal dementia
Review for gene: TAF15 was set to AMBER
Added comment: Two missense variants identified in two unrelated cases with a similar phenotype which included low motor neuron predominant signs, behavioural variant FTD and movement disorders, and in one patient, neuropathology showed a frontotemporal lobar degeneration pattern.
Sources: Expert list
Early-onset Dementia v0.11 SPG11 Bryony Thompson reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27318863, 28237315, 18079167; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668, Amyotrophic lateral sclerosis 5, juvenile MIM#602099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.11 SPART Bryony Thompson Classified gene: SPART as Red List (low evidence)
Early-onset Dementia v0.11 SPART Bryony Thompson Gene: spart has been classified as Red List (Low Evidence).
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.10 SPART Bryony Thompson reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.3 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.3 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.2 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.2 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.2 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.1 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2001 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Intellectual disability syndromic and non-syndromic v0.2000 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Intellectual disability syndromic and non-syndromic v0.1999 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Early-onset Dementia v0.10 SOD1 Bryony Thompson Classified gene: SOD1 as Red List (low evidence)
Early-onset Dementia v0.10 SOD1 Bryony Thompson Gene: sod1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1999 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.9 SOD1 Bryony Thompson reviewed gene: SOD1: Rating: RED; Mode of pathogenicity: None; Publications: 19252762, 20577002; Phenotypes: Amyotrophic lateral sclerosis 1 MIM#105400, Spastic tetraplegia and axial hypotonia, progressive MIM#618598; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1998 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1998 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Autism v0.57 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Autism v0.57 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Red List (Low Evidence).
Autism v0.57 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Autism v0.56 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Autism v0.55 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.54 HDAC4 Zornitza Stark Classified gene: HDAC4 as Red List (low evidence)
Autism v0.54 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Red List (Low Evidence).
Autism v0.53 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: RED; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1271 HDAC4 Zornitza Stark changed review comment from: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).; to: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).
Intellectual disability syndromic and non-syndromic v0.1997 HDAC4 Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.9 SETX Bryony Thompson Classified gene: SETX as Red List (low evidence)
Early-onset Dementia v0.9 SETX Bryony Thompson Gene: setx has been classified as Red List (Low Evidence).
Early-onset Dementia v0.8 SETX Bryony Thompson reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: 24694197; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM#602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1271 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Mendeliome v0.1271 HDAC4 Zornitza Stark Added comment: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).
Mendeliome v0.1271 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.8 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 23656588; 25841028; 27995769
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Review for gene: RNF216 was set to GREEN
Added comment: At least 3 families reported with dementia as a feature of the condition. Mouse model has deficits in spatial learning and memory.
Sources: Expert list
Mendeliome v0.1271 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Mendeliome v0.1270 HDAC4 Zornitza Stark Mode of pathogenicity for gene: HDAC4 was changed from to Other
Mendeliome v0.1269 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Mendeliome v0.1268 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1267 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Mendeliome v0.1267 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.7 PRKN Bryony Thompson edited their review of gene: PRKN: Changed rating: GREEN
Early-onset Dementia v0.7 PRKN Bryony Thompson reviewed gene: PRKN: Rating: ; Mode of pathogenicity: None; Publications: 29644727; Phenotypes: Parkinson disease, juvenile, type 2 MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.7 PINK1 Bryony Thompson reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29644727, 15955953; Phenotypes: Parkinson disease 6, early onset MIM#605909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.7 PARK7 Bryony Thompson reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240358, 27085187, 29644727; Phenotypes: Parkinson disease 7, autosomal recessive early-onset MIM#606324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.7 NR4A2 Bryony Thompson Classified gene: NR4A2 as Red List (low evidence)
Early-onset Dementia v0.7 NR4A2 Bryony Thompson Gene: nr4a2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.6 NR4A2 Bryony Thompson reviewed gene: NR4A2: Rating: RED; Mode of pathogenicity: None; Publications: 12756136, 9092472; Phenotypes: ; Mode of inheritance: Unknown
Early-onset Dementia v0.6 MATR3 Bryony Thompson reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24686783, 30015619; Phenotypes: Amyotrophic lateral sclerosis 21 MIM#606070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.6 LRRK2 Bryony Thompson reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17060595, 31038182, 27521182, 28487191; Phenotypes: Parkinson disease 8 MIM#607060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.6 ALS2 Bryony Thompson Classified gene: ALS2 as Red List (low evidence)
Early-onset Dementia v0.6 ALS2 Bryony Thompson Gene: als2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.5 ALS2 Bryony Thompson Classified gene: ALS2 as Red List (low evidence)
Early-onset Dementia v0.5 ALS2 Bryony Thompson Gene: als2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.5 HTRA2 Bryony Thompson Classified gene: HTRA2 as Red List (low evidence)
Early-onset Dementia v0.5 HTRA2 Bryony Thompson Gene: htra2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.4 HTRA2 Bryony Thompson reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: None; Publications: 18800009; Phenotypes: Parkinson disease 13 MIM#610297, 3-methylglutaconic aciduria, type VIII MIM#617248; Mode of inheritance: None
Regression v0.73 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from Episodic ataxia; progressive neurological deterioration to Episodic ataxia; progressive neurological deterioration
Regression v0.73 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Regression v0.73 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Regression v0.73 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia; progressive neurological deterioration
Regression v0.72 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Regression v0.72 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.71 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Regression v0.71 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Mendeliome v0.1266 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Mendeliome v0.1266 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Regression v0.70 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia, progressive neurological deterioration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1266 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia; progressive neurological deterioration
Mendeliome v0.1265 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Mendeliome v0.1264 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1263 UBR4 Zornitza Stark Classified gene: UBR4 as Amber List (moderate evidence)
Mendeliome v0.1263 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1262 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia, progressive neurological deterioration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1997 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from Episodic ataxia to Episodic ataxia
Intellectual disability syndromic and non-syndromic v0.1996 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia
Intellectual disability syndromic and non-syndromic v0.1995 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Intellectual disability syndromic and non-syndromic v0.1994 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1993 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1993 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1992 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1992 UBR4 Belinda Chong reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.4 HTRA1 Bryony Thompson Classified gene: HTRA1 as Green List (high evidence)
Early-onset Dementia v0.4 HTRA1 Bryony Thompson Gene: htra1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.4 HTRA1 Bryony Thompson Classified gene: HTRA1 as Green List (high evidence)
Early-onset Dementia v0.4 HTRA1 Bryony Thompson Gene: htra1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.3 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HTRA1 were set to 29895533; 26063658; 19387015
Phenotypes for gene: HTRA1 were set to CARASIL syndrome MIM#600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779
Review for gene: HTRA1 was set to GREEN
Added comment: Dementia or cognitive decline have been reported in >3 cases with recessive and dominant disease.
Sources: Expert list
Mendeliome v0.1262 HDAC4 Elena Savva reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early-onset Dementia v0.2 GCH1 Bryony Thompson reviewed gene: GCH1: Rating: RED; Mode of pathogenicity: None; Publications: 29948246; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia MIM#128230, Hyperphenylalaninemia, BH4-deficient, B MIM#233910; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.2 FIG4 Bryony Thompson reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: 28889094, 19118816; Phenotypes: Amyotrophic lateral sclerosis 11 MIM#612577, Charcot-Marie-Tooth disease, type 4J MIM#611228; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.2 CP Bryony Thompson gene: CP was added
gene: CP was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to 7539672; https://doi.org/10.1093/qjmed/89.5.355; 28874056; 28012953
Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Review for gene: CP was set to GREEN
Added comment: >3 cases have been reported with dementia/cognitive decline as a feature of the condition. Cp-/- mice have increased memory impairment and iron accumulation and high expression of CP could have a protective role in Alzheimer's disease.
Sources: Expert list
Genetic Epilepsy v0.594 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Rare Disease; Royal Melbourne Hospital
Mendeliome v0.1262 RCC1L Belinda Chong reviewed gene: RCC1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1262 GMNN Zornitza Stark Marked gene: GMNN as ready
Mendeliome v0.1262 GMNN Zornitza Stark Gene: gmnn has been classified as Green List (High Evidence).
Mendeliome v0.1262 GMNN Zornitza Stark Phenotypes for gene: GMNN were changed from to Meier-Gorlin syndrome 6, MIM# 616835
Mendeliome v0.1261 GMNN Zornitza Stark Publications for gene: GMNN were set to
Mendeliome v0.1260 GMNN Zornitza Stark Mode of inheritance for gene: GMNN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1259 GMNN Zornitza Stark reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637980; Phenotypes: Meier-Gorlin syndrome 6, MIM# 616835; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Marked gene: GMNN as ready
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Gene: gmnn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Classified gene: GMNN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1992 GMNN Zornitza Stark Gene: gmnn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1991 GMNN Zornitza Stark gene: GMNN was added
gene: GMNN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, MIM# 616835
Review for gene: GMNN was set to AMBER
Added comment: Two of the three reported individuals had ID.
Sources: Expert list
Haematuria_Alport v0.31 COL4A5 Zornitza Stark Tag Medicare tag was added to gene: COL4A5.
Haematuria_Alport v0.31 COL4A4 Zornitza Stark Tag Medicare tag was added to gene: COL4A4.
Haematuria_Alport v0.31 COL4A3 Zornitza Stark Tag Medicare tag was added to gene: COL4A3.
Haematuria_Alport v0.30 Zornitza Stark Panel name changed from Haematuria to Haematuria/Alport
Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Early-onset Dementia v0.1 ATP7B Bryony Thompson reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: 26758278, 25988284, 26758278; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Classified gene: TRAPPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1990 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.593 TRAPPC4 Zornitza Stark Marked gene: TRAPPC4 as ready
Genetic Epilepsy v0.593 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Classified gene: TRAPPC4 as Green List (high evidence)
Mendeliome v0.1259 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Mendeliome v0.1258 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1989 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Genetic Epilepsy v0.593 TRAPPC4 Zornitza Stark Classified gene: TRAPPC4 as Green List (high evidence)
Genetic Epilepsy v0.593 TRAPPC4 Zornitza Stark Gene: trappc4 has been classified as Green List (High Evidence).
Early-onset Dementia v0.1 ANG Bryony Thompson reviewed gene: ANG: Rating: RED; Mode of pathogenicity: None; Publications: 19153377; Phenotypes: Amyotrophic lateral sclerosis 9 MIM#611895; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.592 TRAPPC4 Zornitza Stark gene: TRAPPC4 was added
gene: TRAPPC4 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly
Review for gene: TRAPPC4 was set to GREEN
Added comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant.
Sources: Expert Review
Genetic Epilepsy v0.591 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Genetic Epilepsy v0.591 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.591 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Genetic Epilepsy v0.591 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.590 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations; seizures
Review for gene: TMX2 was set to GREEN
Added comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943).
Sources: Expert Review
Early-onset Dementia v0.1 ALS2 Bryony Thompson reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: 31405128, 12145748, 24562058; Phenotypes: Amyotrophic lateral sclerosis 2, juvenile MIM#205100, Primary lateral sclerosis, juvenile MIM#606353, Spastic paralysis, infantile onset ascending MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Marked gene: SNX27 as ready
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Mendeliome v0.1257 SNX27 Zornitza Stark Marked gene: SNX27 as ready
Mendeliome v0.1257 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Classified gene: SNX27 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1988 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Mendeliome v0.1257 SNX27 Zornitza Stark Classified gene: SNX27 as Green List (high evidence)
Mendeliome v0.1257 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1987 SNX27 Zornitza Stark gene: SNX27 was added
gene: SNX27 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to intellectual disability; seizures
Review for gene: SNX27 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert Review
Mendeliome v0.1256 SNX27 Zornitza Stark gene: SNX27 was added
gene: SNX27 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to intellectual disability; seizures
Review for gene: SNX27 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert Review
Genetic Epilepsy v0.589 SNX27 Zornitza Stark Marked gene: SNX27 as ready
Genetic Epilepsy v0.589 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.589 SNX27 Zornitza Stark Classified gene: SNX27 as Green List (high evidence)
Genetic Epilepsy v0.589 SNX27 Zornitza Stark Gene: snx27 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.588 SNX27 Zornitza Stark gene: SNX27 was added
gene: SNX27 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to intellectual disability; seizures
Review for gene: SNX27 was set to GREEN
Added comment: Three unrelated families and animal model.
Sources: Expert Review
Genetic Epilepsy v0.587 PUM1 Zornitza Stark Marked gene: PUM1 as ready
Genetic Epilepsy v0.587 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Marked gene: HMCN1 as ready
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Gene: hmcn1 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Classified gene: HMCN1 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.8 HMCN1 Bryony Thompson Gene: hmcn1 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.7 HMCN1 Bryony Thompson reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: None; Publications: 25986072, 16020313, 14570714; Phenotypes: Age-related macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.587 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from ataxia; intellectual disability; epilepsy to intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM# 617931
Genetic Epilepsy v0.586 PUM1 Zornitza Stark Classified gene: PUM1 as Green List (high evidence)
Genetic Epilepsy v0.586 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.585 PUM1 Zornitza Stark gene: PUM1 was added
gene: PUM1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUM1 were set to 29474920; 25768905; 30903679; 31859446
Phenotypes for gene: PUM1 were set to ataxia; intellectual disability; epilepsy
Review for gene: PUM1 was set to GREEN
Added comment: More than 10 families reported. Individuals with either PUM1 deletions or de novo missense variants have a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). One family with milder missense variant and adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA)
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Classified gene: PMPCB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1986 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1985 PMPCB Zornitza Stark gene: PMPCB was added
gene: PMPCB was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Review for gene: PMPCB was set to GREEN
Added comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Marked gene: NSF as ready
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Classified gene: NSF as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1984 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.584 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Genetic Epilepsy v0.584 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.584 PMPCB Zornitza Stark Classified gene: PMPCB as Green List (high evidence)
Genetic Epilepsy v0.584 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.7 FSCN2 Bryony Thompson Classified gene: FSCN2 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.7 FSCN2 Bryony Thompson Gene: fscn2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.583 PMPCB Zornitza Stark gene: PMPCB was added
gene: PMPCB was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Review for gene: PMPCB was set to GREEN
Added comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy.
Sources: Expert list
Macular Dystrophy/Stargardt Disease v0.6 FSCN2 Bryony Thompson reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.582 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Genetic Epilepsy v0.582 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.582 PCYT2 Zornitza Stark Classified gene: PCYT2 as Green List (high evidence)
Genetic Epilepsy v0.582 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.581 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to intellectual disability; regression; spastic para-/tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Five individuals from four families.
Sources: Expert list
Genetic Epilepsy v0.580 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Genetic Epilepsy v0.580 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.580 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Genetic Epilepsy v0.580 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.579 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787; 22028674
Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000
Review for gene: OXR1 was set to GREEN
Added comment: Five individuals from three unrelated families, supportive animal models.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1983 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Mendeliome v0.1255 NSF Zornitza Stark Marked gene: NSF as ready
Mendeliome v0.1255 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1255 NSF Zornitza Stark Classified gene: NSF as Amber List (moderate evidence)
Mendeliome v0.1255 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1254 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Genetic Epilepsy v0.578 NSF Zornitza Stark Marked gene: NSF as ready
Genetic Epilepsy v0.578 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.578 NSF Zornitza Stark Classified gene: NSF as Amber List (moderate evidence)
Genetic Epilepsy v0.578 NSF Zornitza Stark Gene: nsf has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.577 NSF Zornitza Stark gene: NSF was added
gene: NSF was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSF were set to 31675180
Phenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Review for gene: NSF was set to AMBER
Added comment: Two individuals reported with de novo missense variants in this gene.
Sources: Literature
Mendeliome v0.1253 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Mendeliome v0.1253 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Mendeliome v0.1253 KAT8 Zornitza Stark Classified gene: KAT8 as Green List (high evidence)
Mendeliome v0.1253 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.6 PITPNM3 Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.6 PITPNM3 Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.5 PITPNM3 Bryony Thompson reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Mendeliome v0.1252 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Classified gene: KAT8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1982 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1981 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Genetic Epilepsy v0.576 KAT8 Zornitza Stark Marked gene: KAT8 as ready
Genetic Epilepsy v0.576 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.576 KAT8 Zornitza Stark Classified gene: KAT8 as Green List (high evidence)
Genetic Epilepsy v0.576 KAT8 Zornitza Stark Gene: kat8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.575 KAT8 Zornitza Stark gene: KAT8 was added
gene: KAT8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features
Review for gene: KAT8 was set to GREEN
Added comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism.
Sources: Literature
Genetic Epilepsy v0.574 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Genetic Epilepsy v0.574 SCN9A Zornitza Stark Gene: scn9a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.574 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to {Dravet syndrome, modifier of} MIM#607208; Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863; Febrile seizures, familial, 3B MIM#613863
Genetic Epilepsy v0.573 SCN9A Zornitza Stark Publications for gene: SCN9A were set to
Genetic Epilepsy v0.572 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.571 SCN9A Zornitza Stark Classified gene: SCN9A as Amber List (moderate evidence)
Genetic Epilepsy v0.571 SCN9A Zornitza Stark Gene: scn9a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.570 SCN9A Zornitza Stark reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19763161, 29500686, 30834459, 23895530; Phenotypes: {Dravet syndrome, modifier of} MIM#607208, Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863, Febrile seizures, familial, 3B MIM#613863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.5 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Macular Dystrophy/Stargardt Disease v0.4 Bryony Thompson Panel name changed from Macular Dystrophy/Stargardt Disease_RMH to Macular Dystrophy/Stargardt Disease
Panel status changed from internal to public
Macular Dystrophy/Stargardt Disease v0.3 RBP3 Bryony Thompson Classified gene: RBP3 as Amber List (moderate evidence)
Macular Dystrophy/Stargardt Disease v0.3 RBP3 Bryony Thompson Gene: rbp3 has been classified as Amber List (Moderate Evidence).
Macular Dystrophy/Stargardt Disease v0.2 RBP3 Bryony Thompson reviewed gene: RBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25766589, 19074801; Phenotypes: Retinitis pigmentosa 66 MIM#615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.2 PRDM13 Bryony Thompson Classified gene: PRDM13 as Red List (low evidence)
Macular Dystrophy/Stargardt Disease v0.2 PRDM13 Bryony Thompson Added comment: Comment on list classification: Not detectable with WES
Macular Dystrophy/Stargardt Disease v0.2 PRDM13 Bryony Thompson Gene: prdm13 has been classified as Red List (Low Evidence).
Macular Dystrophy/Stargardt Disease v0.1 PRDM13 Bryony Thompson reviewed gene: PRDM13: Rating: RED; Mode of pathogenicity: Other; Publications: 28973654, 26507665; Phenotypes: Macular dystrophy, North Carolina type MIM#136550; Mode of inheritance: None
Macular Dystrophy/Stargardt Disease v0.1 PRDM13 Bryony Thompson Tag SV/CNV tag was added to gene: PRDM13.
Macular Dystrophy/Stargardt Disease v0.1 CFH Bryony Thompson Classified gene: CFH as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.1 CFH Bryony Thompson Gene: cfh has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.0 CFH Bryony Thompson reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826; Phenotypes: Basal laminar drusen MIM#126700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1980 TRAPPC9 Ain Roesley reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30853973; Phenotypes: Intellectual disability, autosomal recessive 13 (MIM# 613192); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Cystic Disease_SuperPanel v0.116 Bryony Thompson Panel status changed from promoted to public
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Gene: glra1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1980 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1, MIM# 149400 to Hyperekplexia 1, MIM# 149400
Intellectual disability syndromic and non-syndromic v0.1979 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Classified gene: GLRA1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1978 GLRA1 Zornitza Stark Gene: glra1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1977 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1977 GJB1 Zornitza Stark edited their review of gene: GJB1: Added comment: PMID 26385972 reports cognitive impairment in 4 adult cases and PMID 23279342 reports a proband and her sister with severe neuropathy and subclinical cognitive impairment, while the proband's brother showed severe cognitive impairment and mild neuropathy. Based on the current evidence, ID does not appear to be a prominent or consistent part of the phenotype of this neuropathy.; Changed publications: 26385972, 23279342
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Marked gene: GEMIN4 as ready
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Phenotypes for gene: GEMIN4 were changed from to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Publications for gene: GEMIN4 were set to
Intellectual disability syndromic and non-syndromic v0.1977 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1976 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1975 GEMIN4 Zornitza Stark reviewed gene: GEMIN4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25558065, 30237576; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Marked gene: GBA as ready
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1975 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, type II 230900
Intellectual disability syndromic and non-syndromic v0.1974 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1973 GBA Zornitza Stark Classified gene: GBA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1973 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1972 GBA Zornitza Stark reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type II 230900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Marked gene: GAN as ready
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1972 GAN Zornitza Stark Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, MIM# 256850
Intellectual disability syndromic and non-syndromic v0.1971 GAN Zornitza Stark Mode of inheritance for gene: GAN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1970 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1970 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1969 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Marked gene: GABRA2 as ready
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Classified gene: GABRA2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1969 GABRA2 Zornitza Stark Gene: gabra2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1968 GABRA2 Zornitza Stark gene: GABRA2 was added
gene: GABRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849; 31032848
Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, 618557
Review for gene: GABRA2 was set to GREEN
gene: GABRA2 was marked as current diagnostic
Added comment: Six unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Mendeliome v0.1251 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Mendeliome v0.1251 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Mendeliome v0.1251 GABBR2 Zornitza Stark Phenotypes for gene: GABBR2 were changed from to Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Mendeliome v0.1250 GABBR2 Zornitza Stark Publications for gene: GABBR2 were set to
Mendeliome v0.1249 GABBR2 Zornitza Stark Mode of inheritance for gene: GABBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1248 GABBR2 Zornitza Stark reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 28061363, 28135719, 28856709, 29369404, 29377213; Phenotypes: Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Classified gene: GABBR2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1967 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1966 GABBR2 Zornitza Stark gene: GABBR2 was added
gene: GABBR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709; 29369404; 29377213
Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Review for gene: GABBR2 was set to GREEN
gene: GABBR2 was marked as current diagnostic
Added comment: At least 7 unrelated individuals reported, missense variants only, A707T and A567T (recurrent).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1965 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Intellectual disability syndromic and non-syndromic v0.1964 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Genetic Epilepsy v0.570 HNRNPU Zornitza Stark Marked gene: HNRNPU as ready
Genetic Epilepsy v0.570 HNRNPU Zornitza Stark Gene: hnrnpu has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1963 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.570 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Intellectual disability syndromic and non-syndromic v0.1962 HNRNPU Zornitza Stark reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54, MIM#617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.569 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54, MIM#617391
Genetic Epilepsy v0.568 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Genetic Epilepsy v0.567 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.566 HNRNPU Zornitza Stark reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: Epileptic encephalopathy, early infantile, 54, MIM#617391; Phenotypes: 28944577, 28393272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1248 HNRNPU Zornitza Stark Marked gene: HNRNPU as ready
Mendeliome v0.1248 HNRNPU Zornitza Stark Gene: hnrnpu has been classified as Green List (High Evidence).
Mendeliome v0.1248 SERPINI1 Zornitza Stark Marked gene: SERPINI1 as ready
Mendeliome v0.1248 SERPINI1 Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence).
Mendeliome v0.1248 SERPINI1 Zornitza Stark Publications for gene: SERPINI1 were set to
Mendeliome v0.1247 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from to Epileptic encephalopathy, early infantile, 54, MIM#617391
Mendeliome v0.1246 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Mendeliome v0.1245 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1244 SERPINI1 Zornitza Stark Phenotypes for gene: SERPINI1 were changed from to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
Regression v0.70 SERPINI1 Zornitza Stark Marked gene: SERPINI1 as ready
Regression v0.70 SERPINI1 Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence).
Mendeliome v0.1243 SERPINI1 Zornitza Stark Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.70 SERPINI1 Zornitza Stark Phenotypes for gene: SERPINI1 were changed from to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
Mendeliome v0.1242 SERPINI1 Zornitza Stark reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28631894, 25401298, 12103288; Phenotypes: Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.69 SERPINI1 Zornitza Stark Publications for gene: SERPINI1 were set to
Regression v0.68 SERPINI1 Zornitza Stark Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.67 SERPINI1 Zornitza Stark reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28631894, 25401298, 12103288; Phenotypes: Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218; Mode of inheritance: None
Genetic Epilepsy v0.566 SERPINI1 Zornitza Stark Marked gene: SERPINI1 as ready
Genetic Epilepsy v0.566 SERPINI1 Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.566 SERPINI1 Zornitza Stark Classified gene: SERPINI1 as Green List (high evidence)
Genetic Epilepsy v0.566 SERPINI1 Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.565 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Genetic Epilepsy v0.565 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.565 NEU1 Zornitza Stark Classified gene: NEU1 as Green List (high evidence)
Genetic Epilepsy v0.565 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.564 CERS1 Zornitza Stark Marked gene: CERS1 as ready
Genetic Epilepsy v0.564 CERS1 Zornitza Stark Gene: cers1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.564 CERS1 Zornitza Stark Classified gene: CERS1 as Green List (high evidence)
Genetic Epilepsy v0.564 CERS1 Zornitza Stark Gene: cers1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.81 Bryony Thompson removed gene:GATA2 from the panel
Vascular Malformations_Germline v0.80 Bryony Thompson removed gene:FOXC2 from the panel
Vascular Malformations_Germline v0.79 Bryony Thompson removed gene:FLT4 from the panel
Vascular Malformations_Germline v0.78 Bryony Thompson removed gene:FAT4 from the panel
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150
Vascular Malformations_Germline v0.77 Bryony Thompson removed gene:EIF2AK4 from the panel
Vascular Malformations_Germline v0.76 Bryony Thompson removed gene:CCBE1 from the panel
Vascular Malformations_Germline v0.75 Bryony Thompson removed gene:CAV1 from the panel
Vascular Malformations_Germline v0.74 Bryony Thompson removed gene:BMPR2 from the panel
Inflammatory bowel disease v0.5 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Vascular Malformations_Germline v0.73 Bryony Thompson removed gene:GJC2 from the panel
Vascular Malformations_Germline v0.72 Bryony Thompson removed gene:KCNK3 from the panel
Genetic Epilepsy v0.563 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Genetic Epilepsy v0.563 AFG3L2 Zornitza Stark Added comment: Comment when marking as ready: The two families reported with ballelic variants appear distantly related. One family with mono-allelic variant.
Genetic Epilepsy v0.563 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.71 Bryony Thompson removed gene:KIF11 from the panel
Vascular Malformations_Germline v0.70 Bryony Thompson removed gene:PIEZO1 from the panel
Vascular Malformations_Germline v0.69 PTPN11 Bryony Thompson edited their review of gene: PTPN11: Changed rating: RED
Vascular Malformations_Germline v0.69 PTPN11 Bryony Thompson changed review comment from: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital; to: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital
Inflammatory bowel disease v0.4 TTC7A Zornitza Stark Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.69 Bryony Thompson removed gene:SMAD9 from the panel
Vascular Malformations_Germline v0.68 Bryony Thompson removed gene:SOX17 from the panel
Vascular Malformations_Germline v0.67 Bryony Thompson removed gene:SOX18 from the panel
Inflammatory bowel disease v0.3 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.66 Bryony Thompson removed gene:TBX4 from the panel
Combined Immunodeficiency v0.41 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Combined Immunodeficiency v0.41 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.65 Bryony Thompson removed gene:BMPR1B from the panel
Combined Immunodeficiency v0.41 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150
Vascular Malformations_Germline v0.64 Bryony Thompson removed gene:ATP13A3 from the panel
Vascular Malformations_Germline v0.63 Bryony Thompson removed gene:AQP1 from the panel
Combined Immunodeficiency v0.40 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150
Combined Immunodeficiency v0.39 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Mendeliome v0.1242 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Mendeliome v0.1242 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.39 TTC7A Zornitza Stark Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.38 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1242 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from to Gastrointestinal defects and immunodeficiency syndrome, 243150
Mendeliome v0.1241 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Mendeliome v0.1240 TTC7A Zornitza Stark Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1239 HNRNPU Crystle Lee reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54 (MIM#617391); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy v0.49 TMEM106B Ain Roesley reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29186371, 29444210, 28728022, 30643851; Phenotypes: Leukodystrophy, hypomyelinating, 16, (MIM #617964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.563 SERPINI1 Bryony Thompson gene: SERPINI1 was added
gene: SERPINI1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SERPINI1 were set to 28631894; 25401298; 12103288
Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
Review for gene: SERPINI1 was set to GREEN
Added comment: >3 unrelated families with progressive myoclonus epilepsy.
Sources: Expert list
Genetic Epilepsy v0.562 NEU1 Bryony Thompson gene: NEU1 was added
gene: NEU1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEU1 were set to 25401298; 14517945
Phenotypes for gene: NEU1 were set to Sialidosis, type I/II MIM#256550
Review for gene: NEU1 was set to GREEN
Added comment: >3 unrelated cases/families reported with progressive myoclonic epilepsy
Sources: Expert list
Genetic Epilepsy v0.561 CERS1 Bryony Thompson gene: CERS1 was added
gene: CERS1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS1 were set to 24782409; 21625621; 30800706
Phenotypes for gene: CERS1 were set to Epilepsy, progressive myoclonic, 8 MIM#616230
Review for gene: CERS1 was set to GREEN
Added comment: Two unrelated families with PME identified, and functional assays in vitro and in patient cells demonstrating impaired ceramide biosynthesis. Mouse model shows neurodegeneration and lipofuscin accumulation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1962 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Intellectual disability syndromic and non-syndromic v0.1961 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Intellectual disability syndromic and non-syndromic v0.1960 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1959 G6PC3 Zornitza Stark Classified gene: G6PC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1959 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1958 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: RED; Mode of pathogenicity: None; Publications: 20717171; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.3 ATP13A2 Bryony Thompson reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868101, 21362476, 31588715, 22388936; Phenotypes: Kufor-Rakeb syndrome MIM#606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.560 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 25401298; 22022284; 25927548
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246
Review for gene: AFG3L2 was set to AMBER
Added comment: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.
Sources: Expert list
Progressive Myoclonic Epilepsy v0.3 AFG3L2 Bryony Thompson edited their review of gene: AFG3L2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.3 AFG3L2 Bryony Thompson changed review comment from: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.; to: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.
Progressive Myoclonic Epilepsy v0.3 AFG3L2 Bryony Thompson Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Progressive Myoclonic Epilepsy v0.2 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Amber List (moderate evidence)
Progressive Myoclonic Epilepsy v0.2 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Amber List (Moderate Evidence).
Progressive Myoclonic Epilepsy v0.1 AFG3L2 Bryony Thompson reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25401298, 22022284, 25927548; Phenotypes: Spastic ataxia 5, autosomal recessive MIM#614487, Spinocerebellar ataxia 28 MIM#610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.20 DRC1 Zornitza Stark Marked gene: DRC1 as ready
Ciliary Dyskinesia v0.20 DRC1 Zornitza Stark Gene: drc1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.20 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from to Ciliary dyskinesia, primary, 21, MIM# 615294
Ciliary Dyskinesia v0.19 DRC1 Zornitza Stark Publications for gene: DRC1 were set to
Ciliary Dyskinesia v0.18 DRC1 Zornitza Stark Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1239 TTC7A Melanie Marty reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v0.17 DRC1 Zornitza Stark Tag SV/CNV tag was added to gene: DRC1.
Ciliary Dyskinesia v0.17 DRC1 Zornitza Stark reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960620; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v0.41 KDR Zornitza Stark gene: KDR was added
gene: KDR was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDR were set to 31980491
Phenotypes for gene: KDR were set to Pulmonary hypertension
Review for gene: KDR was set to AMBER
Added comment: Two unrelated individuals with PAH and LoF variants reported; segregation evidence in one family.
Sources: Literature
Progressive Myoclonic Epilepsy v0.1 Bryony Thompson Panel name changed from Progressive Myoclonic Epilepsy_RMH to Progressive Myoclonic Epilepsy
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Motor Neurone Disease v0.5 SOD1 Zornitza Stark Marked gene: SOD1 as ready
Motor Neurone Disease v0.5 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.5 SOD1 Zornitza Stark Phenotypes for gene: SOD1 were changed from to Amyotrophic lateral sclerosis 1 (105400 AD, AR); Spastic tetraplegia and axial hypotonia, progressive (618598 AR)
Motor Neurone Disease v0.4 SOD1 Zornitza Stark Publications for gene: SOD1 were set to
Motor Neurone Disease v0.3 SOD1 Zornitza Stark Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1239 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Mendeliome v0.1239 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Mendeliome v0.1239 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 6168963; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
Mendeliome v0.1238 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1237 SASS6 Zornitza Stark Marked gene: SASS6 as ready
Mendeliome v0.1237 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1237 SASS6 Zornitza Stark Phenotypes for gene: SASS6 were changed from to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Mendeliome v0.1236 SASS6 Zornitza Stark Publications for gene: SASS6 were set to
Mendeliome v0.1235 SASS6 Zornitza Stark Mode of inheritance for gene: SASS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1234 SASS6 Zornitza Stark Classified gene: SASS6 as Amber List (moderate evidence)
Mendeliome v0.1234 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1233 SASS6 Zornitza Stark reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1233 ACTB Sebastian Lunke Marked gene: ACTB as ready
Mendeliome v0.1233 ACTB Sebastian Lunke Gene: actb has been classified as Green List (High Evidence).
Mendeliome v0.1233 ACTB Sebastian Lunke Publications for gene: ACTB were set to
Mendeliome v0.1232 ACTB Sebastian Lunke Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder
Mendeliome v0.1231 ACTB Sebastian Lunke Added comment: Comment on mode of pathogenicity: Both GoF and LoF described
Mendeliome v0.1231 ACTB Sebastian Lunke Mode of pathogenicity for gene: ACTB was changed from to Other
Mendeliome v0.1230 ACTB Sebastian Lunke Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1229 ELMOD2 Sebastian Lunke Marked gene: ELMOD2 as ready
Mendeliome v0.1229 ELMOD2 Sebastian Lunke Gene: elmod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1229 ELMOD2 Sebastian Lunke Publications for gene: ELMOD2 were set to
Mendeliome v0.1228 ELMOD2 Sebastian Lunke Classified gene: ELMOD2 as Red List (low evidence)
Mendeliome v0.1228 ELMOD2 Sebastian Lunke Gene: elmod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1227 ELMOD2 Sebastian Lunke reviewed gene: ELMOD2: Rating: RED; Mode of pathogenicity: None; Publications: 16773575; Phenotypes: ; Mode of inheritance: Unknown
Microcephaly v0.82 SASS6 Zornitza Stark Marked gene: SASS6 as ready
Microcephaly v0.82 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.82 SASS6 Zornitza Stark Mode of inheritance for gene: SASS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.81 SASS6 Zornitza Stark Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, MIM# 616402 to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Microcephaly v0.80 SASS6 Zornitza Stark Phenotypes for gene: SASS6 were changed from to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Microcephaly v0.80 SASS6 Zornitza Stark Publications for gene: SASS6 were set to
Microcephaly v0.79 SASS6 Zornitza Stark Classified gene: SASS6 as Amber List (moderate evidence)
Microcephaly v0.79 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.78 SASS6 Zornitza Stark reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1227 GCKR Sebastian Lunke Marked gene: GCKR as ready
Mendeliome v0.1227 GCKR Sebastian Lunke Gene: gckr has been classified as Red List (Low Evidence).
Mendeliome v0.1227 GCKR Sebastian Lunke Publications for gene: GCKR were set to
Mendeliome v0.1226 GCKR Sebastian Lunke Added comment: Comment on mode of inheritance: Risk factor only
Mendeliome v0.1226 GCKR Sebastian Lunke Mode of inheritance for gene: GCKR was changed from Unknown to Other
Mendeliome v0.1225 GCKR Sebastian Lunke Classified gene: GCKR as Red List (low evidence)
Mendeliome v0.1225 GCKR Sebastian Lunke Gene: gckr has been classified as Red List (Low Evidence).
Mendeliome v0.1224 GCKR Sebastian Lunke reviewed gene: GCKR: Rating: RED; Mode of pathogenicity: None; Publications: 31777715; Phenotypes: ; Mode of inheritance: Other
Mendeliome v0.1224 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Mendeliome v0.1224 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1224 CNTN1 Zornitza Stark Phenotypes for gene: CNTN1 were changed from to Myopathy, congenital, Compton-North 612540
Mendeliome v0.1223 CNTN1 Zornitza Stark Publications for gene: CNTN1 were set to
Mendeliome v0.1222 CNTN1 Zornitza Stark Mode of inheritance for gene: CNTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1221 CNTN1 Zornitza Stark Classified gene: CNTN1 as Amber List (moderate evidence)
Mendeliome v0.1221 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1220 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None
Mendeliome v0.1220 OPA1 Ee Ming Wong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30165240; Phenotypes: 1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963, 2. {Glaucoma, normal tension, susceptibility to} 6066573, 3. Behr syndrome 210000 AR, 4. Optic atrophy 1 165500 AD, 5. Optic atrophy plus syndrome 125250 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1220 ACTB Melanie Marty reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29220674; Phenotypes: ?Dystonia, juvenile-onset 607371, Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Motor Neurone Disease v0.2 SOD1 Melanie Marty reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8625408, 21545237, 16503123; Phenotypes: Amyotrophic lateral sclerosis 1 (105400 AD, AR), Spastic tetraplegia and axial hypotonia, progressive (618598 AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Aortopathy_Connective Tissue Disorders v0.11 FBN1 Melanie Marty reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29357934; Phenotypes: Acromicric dysplasia (102370), Ectopia lentis, familial (129600), Geleophysic dysplasia 2 (614185), Marfan lipodystrophy syndrome (616914), Marfan syndrome (154700), MASS syndrome (604308), Stiff skin syndrome (184900), Weill-Marchesani syndrome 2, dominant (608328); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Regression v0.67 COA5 Zornitza Stark Marked gene: COA5 as ready
Regression v0.67 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Callosome v0.75 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Callosome v0.75 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Regression v0.67 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Regression v0.67 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Regression v0.67 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from Mitochondrial complex I deficiency, nuclear type 23 618244 to Mitochondrial complex I deficiency, nuclear type 23 618244
Regression v0.67 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Regression v0.66 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Regression v0.66 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Regression v0.65 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.65 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Regression v0.65 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Regression v0.64 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.75 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Callosome v0.74 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Callosome v0.73 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.72 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Callosome v0.72 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Callosome v0.71 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1220 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Mendeliome v0.1219 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Mendeliome v0.1218 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1217 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Mendeliome v0.1217 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mendeliome v0.1216 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.79 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Mitochondrial disease v0.79 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.79 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Mitochondrial disease v0.78 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Mitochondrial disease v0.77 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.76 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Mitochondrial disease v0.76 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.75 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.75 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Mitochondrial disease v0.75 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Mitochondrial disease v0.75 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672
Mitochondrial disease v0.74 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Mitochondrial disease v0.73 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.72 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1216 MRPS7 Zornitza Stark Marked gene: MRPS7 as ready
Mendeliome v0.1216 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mendeliome v0.1216 MRPS7 Zornitza Stark Phenotypes for gene: MRPS7 were changed from to Combined oxidative phosphorylation deficiency 34, MIM# 617872
Mitochondrial disease v0.72 MRPS7 Zornitza Stark Marked gene: MRPS7 as ready
Mitochondrial disease v0.72 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.72 MRPS7 Zornitza Stark Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1215 MRPS7 Zornitza Stark Publications for gene: MRPS7 were set to
Mendeliome v0.1214 MRPS7 Zornitza Stark Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1213 MRPS7 Zornitza Stark Classified gene: MRPS7 as Red List (low evidence)
Mendeliome v0.1213 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mendeliome v0.1212 MRPS7 Zornitza Stark reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: Combined oxidative phosphorylation deficiency 34, MIM# 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.71 MRPS7 Zornitza Stark Phenotypes for gene: MRPS7 were changed from to Combined oxidative phosphorylation deficiency 34, MIM# 617872
Mitochondrial disease v0.70 MRPS7 Zornitza Stark Publications for gene: MRPS7 were set to
Mitochondrial disease v0.69 MRPS7 Zornitza Stark Classified gene: MRPS7 as Red List (low evidence)
Mitochondrial disease v0.69 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mendeliome v0.1212 MRPS23 Zornitza Stark Marked gene: MRPS23 as ready
Mendeliome v0.1212 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.68 MRPS7 Zornitza Stark reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: Combined oxidative phosphorylation deficiency 34, MIM# 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1212 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies
Mendeliome v0.1211 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to
Mendeliome v0.1210 MRPS23 Zornitza Stark Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.68 MRPS23 Zornitza Stark Marked gene: MRPS23 as ready
Mitochondrial disease v0.68 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mendeliome v0.1209 MRPS23 Zornitza Stark Classified gene: MRPS23 as Red List (low evidence)
Mendeliome v0.1209 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mendeliome v0.1208 MRPS23 Zornitza Stark reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.68 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies
Mitochondrial disease v0.67 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to
Deafness_IsolatedAndComplex v0.309 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mitochondrial disease v0.66 MRPS23 Zornitza Stark Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.65 MRPS23 Zornitza Stark Classified gene: MRPS23 as Red List (low evidence)
Mitochondrial disease v0.65 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.64 MRPS23 Zornitza Stark reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1208 MRPL12 Zornitza Stark Marked gene: MRPL12 as ready
Mendeliome v0.1208 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mendeliome v0.1208 MRPL12 Zornitza Stark Mode of inheritance for gene: MRPL12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1207 MRPL12 Zornitza Stark Publications for gene: MRPL12 were set to
Mendeliome v0.1206 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency
Mendeliome v0.1205 MRPL12 Zornitza Stark Classified gene: MRPL12 as Red List (low evidence)
Mendeliome v0.1205 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.64 MRPL12 Zornitza Stark Marked gene: MRPL12 as ready
Mitochondrial disease v0.64 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.64 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency
Mitochondrial disease v0.63 MRPL12 Zornitza Stark Publications for gene: MRPL12 were set to
Mendeliome v0.1204 MRPL12 Zornitza Stark reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.62 MRPL12 Zornitza Stark Mode of inheritance for gene: MRPL12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.61 MRPL12 Zornitza Stark Classified gene: MRPL12 as Red List (low evidence)
Mitochondrial disease v0.61 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.60 MRPL12 Zornitza Stark reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.60 LYRM4 Zornitza Stark Marked gene: LYRM4 as ready
Mitochondrial disease v0.60 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1204 LYRM4 Zornitza Stark Marked gene: LYRM4 as ready
Mendeliome v0.1204 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1204 LYRM4 Zornitza Stark Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595
Mendeliome v0.1203 LYRM4 Zornitza Stark Publications for gene: LYRM4 were set to
Mendeliome v0.1202 LYRM4 Zornitza Stark Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.60 LYRM4 Zornitza Stark Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595
Mendeliome v0.1201 LYRM4 Zornitza Stark Classified gene: LYRM4 as Amber List (moderate evidence)
Mendeliome v0.1201 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.59 LYRM4 Zornitza Stark Publications for gene: LYRM4 were set to
Mendeliome v0.1200 LYRM4 Zornitza Stark reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.59 LYRM4 Zornitza Stark Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.58 LYRM4 Zornitza Stark Classified gene: LYRM4 as Amber List (moderate evidence)
Mitochondrial disease v0.58 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.57 LYRM4 Zornitza Stark reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.57 COX8A Zornitza Stark Marked gene: COX8A as ready
Mitochondrial disease v0.57 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mendeliome v0.1200 COX8A Zornitza Stark Marked gene: COX8A as ready
Mendeliome v0.1200 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mendeliome v0.1200 COX8A Zornitza Stark Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Mendeliome v0.1199 COX8A Zornitza Stark Publications for gene: COX8A were set to
Mendeliome v0.1198 COX8A Zornitza Stark Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1197 COX8A Zornitza Stark Classified gene: COX8A as Red List (low evidence)
Mendeliome v0.1197 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.57 COX8A Zornitza Stark Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Mendeliome v0.1196 COX8A Zornitza Stark reviewed gene: COX8A: Rating: RED; Mode of pathogenicity: None; Publications: 26685157; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.56 COX8A Zornitza Stark Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.56 COX8A Zornitza Stark Publications for gene: COX8A were set to
Mitochondrial disease v0.55 COX8A Zornitza Stark Classified gene: COX8A as Red List (low evidence)
Mitochondrial disease v0.55 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.54 COX8A Zornitza Stark reviewed gene: COX8A: Rating: RED; Mode of pathogenicity: None; Publications: 26685157; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: None
Mendeliome v0.1196 COA5 Zornitza Stark Marked gene: COA5 as ready
Mendeliome v0.1196 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mendeliome v0.1196 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Mendeliome v0.1195 COA5 Zornitza Stark Publications for gene: COA5 were set to
Mendeliome v0.1194 COA5 Zornitza Stark Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1193 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Mendeliome v0.1193 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mendeliome v0.1192 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.64 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Regression v0.63 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Regression v0.62 COA5 Zornitza Stark Publications for gene: COA5 were set to
Regression v0.61 COA5 Zornitza Stark Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.61 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Regression v0.61 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Regression v0.60 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.54 COA5 Zornitza Stark Marked gene: COA5 as ready
Mitochondrial disease v0.54 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.54 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Mitochondrial disease v0.53 COA5 Zornitza Stark Publications for gene: COA5 were set to
Mitochondrial disease v0.52 COA5 Zornitza Stark Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.51 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Mitochondrial disease v0.51 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.50 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1192 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Mendeliome v0.1192 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Mendeliome v0.1192 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from to Dent disease, MIM#300009; Hypophosphatemic rickets, MIM#300554; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Mendeliome v0.1191 CLCN5 Zornitza Stark Mode of inheritance for gene: CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1190 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554, Nephrolithiasis, type I, MIM#310468, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Calcium and Phosphate disorders v0.20 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from Hypophosphatemic rickets, MIM#307800 to Hypophosphatemic rickets, MIM#307800
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Marked gene: PHEX as ready
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800
Calcium and Phosphate disorders v0.19 PHEX Zornitza Stark Mode of inheritance for gene: PHEX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Calcium and Phosphate disorders v0.18 PHEX Zornitza Stark reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM#307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1190 PHEX Zornitza Stark Marked gene: PHEX as ready
Mendeliome v0.1190 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Mendeliome v0.1190 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800
Mendeliome v0.1189 PHEX Zornitza Stark Mode of inheritance for gene: PHEX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1188 PHEX Zornitza Stark reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM#307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypophosphataemia or rickets v0.4 PHEX Zornitza Stark Marked gene: PHEX as ready
Hypophosphataemia or rickets v0.4 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.4 PHEX Zornitza Stark Phenotypes for gene: PHEX were changed from to Hypophosphatemic rickets, MIM#307800
Hypophosphataemia or rickets v0.3 PHEX Zornitza Stark Publications for gene: PHEX were set to
Hypophosphataemia or rickets v0.2 PHEX Zornitza Stark Mode of inheritance for gene: PHEX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Congenital Disorders of Glycosylation v0.35 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Congenital Disorders of Glycosylation v0.34 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1188 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Mendeliome v0.1188 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Mendeliome v0.1188 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1958 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from Kleefstra syndrome 1 (MIM#610253) to Kleefstra syndrome 1 (MIM#610253)
Intellectual disability syndromic and non-syndromic v0.1957 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1 (MIM#610253)
Intellectual disability syndromic and non-syndromic v0.1956 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1955 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1187 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Mendeliome v0.1186 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.11 FLNC Zornitza Stark Marked gene: FLNC as ready
Hypertrophic cardiomyopathy v0.11 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.11 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Hypertrophic cardiomyopathy v0.11 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Mendeliome v0.1185 EHMT1 Crystle Lee reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19264732; Phenotypes: Kleefstra syndrome 1 (MIM#610253); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.10 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert Review
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 31924696; 28356264
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26
Review for gene: FLNC was set to GREEN
Added comment: Multiple affected individuals with cardiomyopathy, including HOCM reported.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.33 PMM2 Melanie Marty reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21541725; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypophosphataemia or rickets v0.1 PHEX Teresa Zhao reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12727977, 30682568; Phenotypes: Hypophosphatemic rickets; 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 v0.1955 FTO Zornitza Stark Marked gene: FTO as ready
Intellectual disability syndromic and non-syndromic v0.1955 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1955 FTO Zornitza Stark Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938
Intellectual disability syndromic and non-syndromic v0.1954 FTO Zornitza Stark Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1953 FTO Zornitza Stark Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938
Intellectual disability syndromic and non-syndromic v0.1952 FTO Zornitza Stark Publications for gene: FTO were set to
Intellectual disability syndromic and non-syndromic v0.1951 FTO Zornitza Stark Classified gene: FTO as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1951 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1950 FTO Zornitza Stark reviewed gene: FTO: Rating: ; Mode of pathogenicity: None; Publications: 19559399, 26378117; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM# 612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Marked gene: FRRS1L as ready
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Classified gene: FRRS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1950 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1949 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRRS1L were set to 27236917; 27239025
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, MIM#616981
Review for gene: FRRS1L was set to GREEN
Added comment: Five unrelated individuals reported.
Sources: Expert list
Mendeliome v0.1185 FIBP Zornitza Stark Marked gene: FIBP as ready
Mendeliome v0.1185 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1185 FIBP Zornitza Stark Publications for gene: FIBP were set to
Mendeliome v0.1184 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Mendeliome v0.1183 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1182 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Mendeliome v0.1182 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Marked gene: FIBP as ready
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1181 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.18 FIBP Zornitza Stark Marked gene: FIBP as ready
Macrocephaly_Megalencephaly v0.18 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.18 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Macrocephaly_Megalencephaly v0.17 FIBP Zornitza Stark Publications for gene: FIBP were set to
Macrocephaly_Megalencephaly v0.16 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.15 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.15 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.14 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.15 FIBP Zornitza Stark Marked gene: FIBP as ready
Overgrowth v0.15 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Overgrowth v0.15 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Overgrowth v0.14 FIBP Zornitza Stark Publications for gene: FIBP were set to
Overgrowth v0.13 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.12 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Overgrowth v0.12 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1948 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome, MIM#617107 to Thauvin-Robinet-Faivre syndrome, MIM#617107
Overgrowth v0.11 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1947 FIBP Zornitza Stark Publications for gene: FIBP were set to
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1946 FIBP Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1945 FIBP Zornitza Stark reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1945 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Hartsfield syndrome, MIM# 615465
Intellectual disability syndromic and non-syndromic v0.1944 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
Intellectual disability syndromic and non-syndromic v0.1943 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1942 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600
Intellectual disability syndromic and non-syndromic v0.1941 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1940 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CATSHL syndrome 610474, Hypochondroplasia 146000, SADDAN 616482, Muenke syndrome 602849, Thanatophoric dysplasia, type I 187600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1940 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812909; Phenotypes: Hartsfield syndrome, MIM# 615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1181 CHST8 Zornitza Stark Marked gene: CHST8 as ready
Mendeliome v0.1181 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Mendeliome v0.1181 CHST8 Zornitza Stark Phenotypes for gene: CHST8 were changed from to Peeling skin syndrome
Mendeliome v0.1180 CHST8 Zornitza Stark Publications for gene: CHST8 were set to
Mendeliome v0.1179 CHST8 Zornitza Stark Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1178 CHST8 Zornitza Stark Classified gene: CHST8 as Red List (low evidence)
Mendeliome v0.1178 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Mendeliome v0.1177 CHST8 Zornitza Stark reviewed gene: CHST8: Rating: RED; Mode of pathogenicity: None; Publications: 22289416, 28204496; Phenotypes: Peeling skin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.33 CHST8 Zornitza Stark Marked gene: CHST8 as ready
Congenital Disorders of Glycosylation v0.33 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.33 CHST8 Zornitza Stark Phenotypes for gene: CHST8 were changed from to Peeling Skin Syndrome
Congenital Disorders of Glycosylation v0.32 CHST8 Zornitza Stark Publications for gene: CHST8 were set to
Congenital Disorders of Glycosylation v0.31 CHST8 Zornitza Stark Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.30 CHST8 Zornitza Stark Classified gene: CHST8 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.30 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.29 CHST8 Elena Savva reviewed gene: CHST8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22289416, 28204496; Phenotypes: Peeling Skin Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1177 RASA2 Sebastian Lunke Marked gene: RASA2 as ready
Mendeliome v0.1177 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1177 RASA2 Sebastian Lunke Mode of inheritance for gene: RASA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.14 RASA2 Sebastian Lunke Marked gene: RASA2 as ready
Macrocephaly_Megalencephaly v0.14 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Red List (Low Evidence).
Mendeliome v0.1176 RASA2 Sebastian Lunke Classified gene: RASA2 as Amber List (moderate evidence)
Mendeliome v0.1176 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.14 RASA2 Sebastian Lunke Publications for gene: RASA2 were set to
Rasopathy v0.11 RASA2 Sebastian Lunke Publications for gene: RASA2 were set to 25049390; 25049390
Mendeliome v0.1175 RASA2 Sebastian Lunke reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25049390, 30311384; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.13 RASA2 Sebastian Lunke Classified gene: RASA2 as Red List (low evidence)
Macrocephaly_Megalencephaly v0.13 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.12 RASA2 Sebastian Lunke reviewed gene: RASA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rasopathy v0.10 RASA2 Sebastian Lunke Marked gene: RASA2 as ready
Rasopathy v0.10 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Rasopathy v0.10 RASA2 Sebastian Lunke Publications for gene: RASA2 were set to
Rasopathy v0.9 RASA2 Sebastian Lunke Mode of inheritance for gene: RASA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.8 RASA2 Sebastian Lunke Classified gene: RASA2 as Amber List (moderate evidence)
Rasopathy v0.8 RASA2 Sebastian Lunke Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Rasopathy v0.7 RASA2 Sebastian Lunke reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25049390, 25049390; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark changed review comment from: Both mono allelic and biallelic variants cause disease, no evidence for imprinting.; to: Both mono allelic and biallelic variants cause disease; excess of maternally inherited variants observed in LongQT syndrome likely linked to imprinting at this locus.
Mendeliome v0.1175 TKFC Zornitza Stark Marked gene: TKFC as ready
Mendeliome v0.1175 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1175 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Mendeliome v0.1175 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1174 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Marked gene: TKFC as ready
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cataract v0.15 TKFC Zornitza Stark Marked gene: TKFC as ready
Cataract v0.15 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cataract v0.15 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Cataract v0.15 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cataract v0.14 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Cataract. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1940 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1939 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.559 RALGAPA1 Zornitza Stark Marked gene: RALGAPA1 as ready
Genetic Epilepsy v0.559 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.559 RALGAPA1 Zornitza Stark Classified gene: RALGAPA1 as Green List (high evidence)
Genetic Epilepsy v0.559 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.558 RALGAPA1 Zornitza Stark gene: RALGAPA1 was added
gene: RALGAPA1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.
Review for gene: RALGAPA1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Literature
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Marked gene: RALGAPA1 as ready
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Classified gene: RALGAPA1 as Green List (high evidence)
Mendeliome v0.1173 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Mendeliome v0.1172 RALGAPA1 Zornitza Stark gene: RALGAPA1 was added
gene: RALGAPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.
Review for gene: RALGAPA1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Marked gene: RALGAPA1 as ready
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Classified gene: RALGAPA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1938 RALGAPA1 Zornitza Stark Gene: ralgapa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1937 RALGAPA1 Zornitza Stark gene: RALGAPA1 was added
gene: RALGAPA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to Intellectual disability; hypotonia; infantile spasms.
Review for gene: RALGAPA1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Marked gene: FDXR as ready
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1936 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Intellectual disability syndromic and non-syndromic v0.1935 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1934 FDXR Zornitza Stark Classified gene: FDXR as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1934 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1933 FGF14 Zornitza Stark reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 27, MIM# 609307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1933 FDXR Zornitza Stark reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Marked gene: FANCG as ready
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Gene: fancg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1933 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anemia, complementation group G, MIM# 614082
Intellectual disability syndromic and non-syndromic v0.1932 FANCB Zornitza Stark Marked gene: FANCB as ready
Intellectual disability syndromic and non-syndromic v0.1932 FANCB Zornitza Stark Gene: fancb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1932 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1931 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514
Intellectual disability syndromic and non-syndromic v0.1931 FANCG Zornitza Stark Classified gene: FANCG as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1931 FANCG Zornitza Stark Gene: fancg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1930 FANCG Zornitza Stark reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group G, MIM# 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1930 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1929 FANCD2 Zornitza Stark Classified gene: FANCD2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1929 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1928 FANCD2 Zornitza Stark edited their review of gene: FANCD2: Added comment: Clinical presentation is typically with congenital abnormalities/BMF. Only ~10% have ID as part of the phenotype.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1928 FANCB Zornitza Stark Classified gene: FANCB as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1928 FANCB Zornitza Stark Gene: fancb has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1927 FANCB Zornitza Stark reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1927 ERCC4 Zornitza Stark changed review comment from: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progressed syndrome.; to: Intellect normal in xeroderma pigmentosum; mild learning difficulties described in XFE progeroid syndrome.
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Marked gene: EPB41L1 as ready
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1171 EPB41L1 Zornitza Stark Marked gene: EPB41L1 as ready
Mendeliome v0.1171 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1171 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Mendeliome v0.1170 EPB41L1 Zornitza Stark Publications for gene: EPB41L1 were set to
Intellectual disability syndromic and non-syndromic v0.1927 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Mendeliome v0.1169 EPB41L1 Zornitza Stark Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1168 EPB41L1 Zornitza Stark Classified gene: EPB41L1 as Red List (low evidence)
Mendeliome v0.1168 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1167 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11, MIM# 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1926 EPB41L1 Zornitza Stark Publications for gene: EPB41L1 were set to
Intellectual disability syndromic and non-syndromic v0.1925 EPB41L1 Zornitza Stark Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1924 EPB41L1 Zornitza Stark Classified gene: EPB41L1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1924 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1923 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1167 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Mendeliome v0.1167 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Classified gene: EMG1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1923 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1922 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180
Review for gene: EMG1 was set to AMBER
Added comment: Founder mutation in Hutterite, D86G.
Sources: Expert list
Mendeliome v0.1167 EMC1 Zornitza Stark Phenotypes for gene: EMC1 were changed from to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Mendeliome v0.1166 EMC1 Zornitza Stark Publications for gene: EMC1 were set to
Mendeliome v0.1165 EMC1 Zornitza Stark Mode of inheritance for gene: EMC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1164 EMC1 Zornitza Stark reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942288, 29271071; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Classified gene: EMC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1921 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1920 EMC1 Zornitza Stark gene: EMC1 was added
gene: EMC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 26942288; 29271071
Phenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Review for gene: EMC1 was set to GREEN
gene: EMC1 was marked as current diagnostic
Added comment: Four unrelated families with bi-allelic variants in this gene reported. Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1919 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from to Craniofrontonasal dysplasia, MIM# 304110
Intellectual disability syndromic and non-syndromic v0.1918 EFNB1 Zornitza Stark Mode of inheritance for gene: EFNB1 was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1917 EFNB1 Zornitza Stark Classified gene: EFNB1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1917 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1916 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia, MIM# 304110; Mode of inheritance: Other
Mendeliome v0.1164 SOD2 Zornitza Stark Marked gene: SOD2 as ready
Mendeliome v0.1164 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1164 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from to {Microvascular complications of diabetes 6} 612634
Mendeliome v0.1163 SOD2 Zornitza Stark Mode of inheritance for gene: SOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1162 SOD2 Zornitza Stark Classified gene: SOD2 as Red List (low evidence)
Mendeliome v0.1162 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.1161 SOD2 Zornitza Stark reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Microvascular complications of diabetes 6} 612634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1161 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Mendeliome v0.1161 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Mendeliome v0.1161 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Mendeliome v0.1160 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Mendeliome v0.1159 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1158 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1916 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Intellectual disability syndromic and non-syndromic v0.1915 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Mendeliome v0.1158 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1914 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1913 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Intellectual disability syndromic and non-syndromic v0.1913 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.50 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Mitochondrial disease v0.50 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.50 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Mitochondrial disease v0.49 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Mitochondrial disease v0.48 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.47 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Mitochondrial disease v0.47 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.9 MYOM1 Zornitza Stark Marked gene: MYOM1 as ready
Hypertrophic cardiomyopathy v0.9 MYOM1 Zornitza Stark Gene: myom1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1158 MYOM1 Zornitza Stark Marked gene: MYOM1 as ready
Mendeliome v0.1158 MYOM1 Zornitza Stark Gene: myom1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1158 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from to Hypertrophic cardiomyopathy
Mendeliome v0.1157 MYOM1 Zornitza Stark Publications for gene: MYOM1 were set to
Mendeliome v0.1156 MYOM1 Zornitza Stark Mode of inheritance for gene: MYOM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1155 MYOM1 Zornitza Stark Classified gene: MYOM1 as Amber List (moderate evidence)
Mendeliome v0.1155 MYOM1 Zornitza Stark Gene: myom1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.9 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from to Hypertrophic cardiomyopathy
Mendeliome v0.1154 MYOM1 Zornitza Stark reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27600940, 26656175, 21256114; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.8 MYOM1 Zornitza Stark Publications for gene: MYOM1 were set to
Hypertrophic cardiomyopathy v0.7 MYOM1 Zornitza Stark Mode of inheritance for gene: MYOM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.6 MYOM1 Zornitza Stark Classified gene: MYOM1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.6 MYOM1 Zornitza Stark Gene: myom1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.5 MYOM1 Zornitza Stark reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27600940, 26656175, 21256114; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1913 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1912 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1911 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Intellectual disability syndromic and non-syndromic v0.1910 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Intellectual disability syndromic and non-syndromic v0.1909 DPM3 Zornitza Stark Classified gene: DPM3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1909 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1908 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: RED; Mode of pathogenicity: None; Publications: 19576565, 28803818, 30931530, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1908 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Intellectual disability syndromic and non-syndromic v0.1907 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Intellectual disability syndromic and non-syndromic v0.1906 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1905 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1905 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1904 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
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1904 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192
Intellectual disability syndromic and non-syndromic v0.1903 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
Intellectual disability syndromic and non-syndromic v0.1902 DNAJC3 Zornitza Stark Mode of inheritance for gene: DNAJC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1901 DNAJC3 Zornitza Stark Classified gene: DNAJC3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1901 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1900 DNAJC3 Zornitza Stark reviewed gene: DNAJC3: Rating: RED; Mode of pathogenicity: None; Publications: 25466870, 28940199; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1900 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Mendeliome v0.1154 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Mendeliome v0.1153 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Mendeliome v0.1152 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1151 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Mendeliome v0.1151 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Mendeliome v0.1150 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1900 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Intellectual disability syndromic and non-syndromic v0.1899 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Intellectual disability syndromic and non-syndromic v0.1898 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Classified gene: DLG4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1897 DLG4 Zornitza Stark Gene: dlg4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1896 DLG4 Zornitza Stark edited their review of gene: DLG4: Added comment: Four unrelated individuals reported.; Changed rating: GREEN; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719; Changed phenotypes: Intellectual disability, Marfanoid habitus; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Classified gene: DLAT as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1896 DLAT Zornitza Stark Gene: dlat has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DLAT Zornitza Stark edited their review of gene: DLAT: Added comment: Only two families with ID reported; third individual had paroxysmal dyskinesia.; Changed rating: AMBER; Changed publications: 16049940, 29093066
Mendeliome v0.1150 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Mendeliome v0.1150 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1150 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Mendeliome v0.1149 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
Mendeliome v0.1148 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1147 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1146 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Mendeliome v0.1146 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1145 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Marked gene: DIP2B as ready
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1895 DIP2B Zornitza Stark Phenotypes for gene: DIP2B were changed from to Mental retardation, FRA12A type, MIM# 136630
Intellectual disability syndromic and non-syndromic v0.1894 DIP2B Zornitza Stark Publications for gene: DIP2B were set to
Intellectual disability syndromic and non-syndromic v0.1893 DIP2B Zornitza Stark Mode of pathogenicity for gene: DIP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.1892 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1891 DIP2B Zornitza Stark Mode of inheritance for gene: DIP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Classified gene: DIP2B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1890 DIP2B Zornitza Stark Gene: dip2b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark Tag 5'UTR tag was added to gene: DIP2B.
Intellectual disability syndromic and non-syndromic v0.1889 DIP2B Zornitza Stark reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17236128; Phenotypes: Mental retardation, FRA12A type, MIM# 136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Classified gene: DENND5A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1889 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1888 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DENND5A were set to 27431290; 27866705
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Review for gene: DENND5A was set to GREEN
Added comment: Four unrelated families, ID is part of the phenotype.
Sources: Expert list
Mendeliome v0.1145 DCPS Zornitza Stark Marked gene: DCPS as ready
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1145 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Mendeliome v0.1145 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Mendeliome v0.1144 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Marked gene: DCPS as ready
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Classified gene: DCPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1887 DCPS Zornitza Stark Gene: dcps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1886 DCPS Zornitza Stark gene: DCPS was added
gene: DCPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25701870; 30289615; 25712129
Phenotypes for gene: DCPS were set to Al-Raqad syndrome, MIM#616459
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: 7 individuals from 3 families reported.
Sources: Expert list
Callosome v0.71 DCC Zornitza Stark Marked gene: DCC as ready
Callosome v0.71 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Callosome v0.71 DCC Zornitza Stark Phenotypes for gene: DCC were changed from to Agenesis of the corpus callosum
Callosome v0.70 DCC Zornitza Stark Publications for gene: DCC were set to
Callosome v0.69 DCC Zornitza Stark Mode of inheritance for gene: DCC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.68 DCC Zornitza Stark reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31697046; Phenotypes: Agenesis of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1885 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1884 CWF19L1 Zornitza Stark gene: CWF19L1 was added
gene: CWF19L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 15981765; 26197978; 27016154; 30167849
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Review for gene: CWF19L1 was set to GREEN
gene: CWF19L1 was marked as current diagnostic
Added comment: Three unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Mendeliome v0.1143 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1143 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Mendeliome v0.1143 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Mendeliome v0.1142 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, 618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Marked gene: CUX1 as ready
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Classified gene: CUX1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1883 CUX1 Zornitza Stark Gene: cux1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1882 CUX1 Zornitza Stark gene: CUX1 was added
gene: CUX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 25059644; 20510857; 30014507
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, MIM#618330
Review for gene: CUX1 was set to GREEN
gene: CUX1 was marked as current diagnostic
Added comment: Nine individuals from 7 families reported. Three individuals had normal intelligence at school age despite significant early developmental delay.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Marked gene: CRBN as ready
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1881 CRBN Zornitza Stark Phenotypes for gene: CRBN were changed from to Mental retardation, autosomal recessive 2, MIM# 607417
Intellectual disability syndromic and non-syndromic v0.1880 CRBN Zornitza Stark Publications for gene: CRBN were set to
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Classified gene: CRBN as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1879 CRBN Zornitza Stark Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1878 CRBN Zornitza Stark reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: None; Publications: 15557513, 28143899; Phenotypes: Mental retardation, autosomal recessive 2, MIM# 607417; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Classified gene: COQ9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1878 COQ9 Zornitza Stark Gene: coq9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1877 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Reviewed again: severe neonatal presentation with metabolic decompensation, including neurological features such as abnormal tone and seizures, but not intellectual disability as such. Downgrade to Amber on this panel.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Classified gene: COQ2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1877 COQ2 Zornitza Stark Gene: coq2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COQ2 Zornitza Stark edited their review of gene: COQ2: Added comment: On further review of the literature, there is poor documentation of intellectual disability as such in the molecularly confirmed cases. Presentation is much more commonly with renal or multi-system disease.; Changed rating: AMBER
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1876 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1875 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MIM# 248340
Intellectual disability syndromic and non-syndromic v0.1874 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Classified gene: COLEC10 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1873 COLEC10 Zornitza Stark Gene: colec10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1872 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: RED; Mode of pathogenicity: None; Publications: 28301481; Phenotypes: 3MC syndrome 3, MIM# 248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1872 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Intellectual disability syndromic and non-syndromic v0.1871 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.47 COA3 Zornitza Stark Marked gene: COA3 as ready
Mitochondrial disease v0.47 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Classified gene: COL1A2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1870 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1141 COA3 Zornitza Stark Marked gene: COA3 as ready
Mendeliome v0.1141 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.47 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Mendeliome v0.1141 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Mendeliome v0.1140 COA3 Zornitza Stark Publications for gene: COA3 were set to
Mendeliome v0.1139 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1138 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Mendeliome v0.1138 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.46 COA3 Zornitza Stark Publications for gene: COA3 were set to
Mendeliome v0.1137 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.45 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.44 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Mitochondrial disease v0.44 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.43 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Marked gene: COA3 as ready
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1869 COA3 Zornitza Stark Publications for gene: COA3 were set to 25604084
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Publications for gene: COA3 were set to
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1868 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1868 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1867 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1867 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1866 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1866 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1137 CNTN3 Zornitza Stark Marked gene: CNTN3 as ready
Mendeliome v0.1137 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1137 CNTN3 Zornitza Stark Phenotypes for gene: CNTN3 were changed from to Intellectual disability
Mendeliome v0.1136 CNTN3 Zornitza Stark Publications for gene: CNTN3 were set to
Mendeliome v0.1135 CNTN3 Zornitza Stark Mode of inheritance for gene: CNTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1134 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Mendeliome v0.1134 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1133 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Classified gene: CNTN3 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1865 CNTN3 Zornitza Stark Gene: cntn3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CNTN3 Zornitza Stark reviewed gene: CNTN3: Rating: RED; Mode of pathogenicity: None; Publications: 28600779; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Marked gene: CLPP as ready
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1864 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Intellectual disability syndromic and non-syndromic v0.1863 CLPP Zornitza Stark Publications for gene: CLPP were set to
Intellectual disability syndromic and non-syndromic v0.1862 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Classified gene: CLPP as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1861 CLPP Zornitza Stark Gene: clpp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CLPP Zornitza Stark reviewed gene: CLPP: Rating: RED; Mode of pathogenicity: None; Publications: 23541340; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1860 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Intellectual disability syndromic and non-syndromic v0.1859 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Intellectual disability syndromic and non-syndromic v0.1858 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Classified gene: CHRNA4 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1857 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CHRNA4 Zornitza Stark reviewed gene: CHRNA4: Rating: RED; Mode of pathogenicity: None; Publications: 14623738; Phenotypes: Epilepsy, nocturnal frontal lobe, 1, MIM# 600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1856 CHD1 Zornitza Stark edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.14 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.13 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Classified gene: CEP104 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1856 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1855 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781
Review for gene: CEP104 was set to GREEN
Added comment: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1854 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to IMAGE syndrome, MIM# 614732
Intellectual disability syndromic and non-syndromic v0.1853 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1852 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGE syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1133 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Mendeliome v0.1133 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1133 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1132 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Mendeliome v0.1131 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Mendeliome v0.1130 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Mendeliome v0.1130 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Mendeliome v0.1129 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Marked gene: CDK5R1 as ready
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1851 CDK5R1 Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1850 CDK5R1 Zornitza Stark Publications for gene: CDK5R1 were set to
Intellectual disability syndromic and non-syndromic v0.1849 CDK5R1 Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1848 CDK5R1 Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CDK5R1 Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1847 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507
Intellectual disability syndromic and non-syndromic v0.1846 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Intellectual disability syndromic and non-syndromic v0.1845 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1844 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Classified gene: CARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1844 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1843 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 30139652; 25787132
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672
Review for gene: CARS2 was set to GREEN
Added comment: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1842 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Intellectual disability syndromic and non-syndromic v0.1841 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Classified gene: CANT1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1840 CANT1 Zornitza Stark Gene: cant1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desbuquois dysplasia 1, MIM# 251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1129 LIPN Zornitza Stark Marked gene: LIPN as ready
Mendeliome v0.1129 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Mendeliome v0.1129 LIPN Zornitza Stark Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Mendeliome v0.1128 LIPN Zornitza Stark Publications for gene: LIPN were set to
Mendeliome v0.1127 LIPN Zornitza Stark Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1126 LIPN Zornitza Stark Classified gene: LIPN as Red List (low evidence)
Mendeliome v0.1126 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Mendeliome v0.1125 LIPN Zornitza Stark reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.4 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to RED
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition.
Sources: Literature
Vascular Malformations_Germline v0.62 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Ichthyosis and Porokeratosis v0.69 LIPN Zornitza Stark Marked gene: LIPN as ready
Ichthyosis and Porokeratosis v0.69 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.69 LIPN Zornitza Stark Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
Ichthyosis and Porokeratosis v0.68 LIPN Zornitza Stark Publications for gene: LIPN were set to
Ichthyosis and Porokeratosis v0.67 LIPN Zornitza Stark Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.66 LIPN Zornitza Stark Classified gene: LIPN as Red List (low evidence)
Ichthyosis and Porokeratosis v0.66 LIPN Zornitza Stark Gene: lipn has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.65 LIPN Zornitza Stark reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM# 613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Marked gene: CA5A as ready
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Gene: ca5a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1839 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Intellectual disability syndromic and non-syndromic v0.1838 CA5A Zornitza Stark Publications for gene: CA5A were set to
Ichthyosis and Porokeratosis v0.65 EBP Zornitza Stark Marked gene: EBP as ready
Ichthyosis and Porokeratosis v0.65 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.65 CLDN1 Zornitza Stark Marked gene: CLDN1 as ready
Ichthyosis and Porokeratosis v0.65 CLDN1 Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.65 CLDN1 Zornitza Stark Classified gene: CLDN1 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.65 CLDN1 Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.64 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Ichthyosis and Porokeratosis v0.64 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.64 GTF2H5 Zornitza Stark Classified gene: GTF2H5 as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v0.64 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.63 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Ichthyosis and Porokeratosis v0.63 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.63 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Ichthyosis and Porokeratosis v0.63 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.63 SUMF1 Zornitza Stark Classified gene: SUMF1 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.63 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.62 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Ichthyosis and Porokeratosis v0.62 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.62 SULT2B1 Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14 MIM#617571
Ichthyosis and Porokeratosis v0.61 SULT2B1 Zornitza Stark Publications for gene: SULT2B1 were set to
Ichthyosis and Porokeratosis v0.60 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.59 ST14 Zornitza Stark Marked gene: ST14 as ready
Ichthyosis and Porokeratosis v0.59 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.59 ST14 Zornitza Stark Classified gene: ST14 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.59 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.58 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Ichthyosis and Porokeratosis v0.58 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.58 SPINK5 Zornitza Stark Classified gene: SPINK5 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.58 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.57 SLC27A4 Zornitza Stark Marked gene: SLC27A4 as ready
Ichthyosis and Porokeratosis v0.57 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.57 SLC27A4 Zornitza Stark Classified gene: SLC27A4 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.57 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.56 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 MIM#617115 to Peeling skin syndrome 5 MIM#617115
Ichthyosis and Porokeratosis v0.56 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Ichthyosis and Porokeratosis v0.56 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.56 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5 MIM#617115
Ichthyosis and Porokeratosis v0.55 SERPINB8 Zornitza Stark Publications for gene: SERPINB8 were set to
Ichthyosis and Porokeratosis v0.54 SERPINB8 Zornitza Stark Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1125 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Mendeliome v0.1125 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Mendeliome v0.1125 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Mendeliome v0.1125 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Mendeliome v0.1124 SDR9C7 Zornitza Stark gene: SDR9C7 was added
gene: SDR9C7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Ichthyosis and Porokeratosis v0.53 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Ichthyosis and Porokeratosis v0.53 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.53 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.53 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.52 POMP Zornitza Stark Marked gene: POMP as ready
Ichthyosis and Porokeratosis v0.52 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.52 POMP Zornitza Stark Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952
Ichthyosis and Porokeratosis v0.51 POMP Zornitza Stark Tag 5'UTR tag was added to gene: POMP.
Ichthyosis and Porokeratosis v0.51 POMP Zornitza Stark Publications for gene: POMP were set to
Ichthyosis and Porokeratosis v0.51 POMP Zornitza Stark Mode of inheritance for gene: POMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.50 PHYH Zornitza Stark Marked gene: PHYH as ready
Ichthyosis and Porokeratosis v0.50 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.50 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ichthyosis and Porokeratosis v0.50 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.50 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Ichthyosis and Porokeratosis v0.50 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.50 NSDHL Zornitza Stark Classified gene: NSDHL as Green List (high evidence)
Ichthyosis and Porokeratosis v0.50 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.49 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Ichthyosis and Porokeratosis v0.49 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.49 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.49 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.48 KDSR Zornitza Stark Marked gene: KDSR as ready
Ichthyosis and Porokeratosis v0.48 KDSR Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.48 KDSR Zornitza Stark Classified gene: KDSR as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v0.48 KDSR Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.47 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Ichthyosis and Porokeratosis v0.47 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.47 GJB4 Zornitza Stark Phenotypes for gene: GJB4 were changed from to Erythrokeratodermia variabilis et progressiva 2 MIM#617524
Ichthyosis and Porokeratosis v0.46 GJB4 Zornitza Stark Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.45 GJB4 Zornitza Stark Classified gene: GJB4 as Red List (low evidence)
Ichthyosis and Porokeratosis v0.45 GJB4 Zornitza Stark Gene: gjb4 has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.44 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Ichthyosis and Porokeratosis v0.44 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.44 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1 MIM#133200
Ichthyosis and Porokeratosis v0.43 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.42 GJB3 Zornitza Stark Classified gene: GJB3 as Red List (low evidence)
Ichthyosis and Porokeratosis v0.42 GJB3 Zornitza Stark Gene: gjb3 has been classified as Red List (Low Evidence).
Ichthyosis and Porokeratosis v0.41 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Ichthyosis and Porokeratosis v0.41 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.41 GJB2 Zornitza Stark Classified gene: GJB2 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.41 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.40 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Ichthyosis and Porokeratosis v0.40 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.40 ERCC2 Zornitza Stark Classified gene: ERCC2 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.40 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Added comment: Comment when marking as ready: Monoallelic variants associated with ID; bi-allelic variants associated with neuropathy/spastic paraplegia phenotypes.
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1837 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9, MIM#614255
Intellectual disability syndromic and non-syndromic v0.1836 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Intellectual disability syndromic and non-syndromic v0.1835 KIF1A Zornitza Stark Mode of pathogenicity for gene: KIF1A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1834 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Long QT Syndrome v0.3 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Atrial fibrillation, familial, 3 607554; Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, 192500; Short QT syndrome 2 609621
Long QT Syndrome v0.2 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Long QT Syndrome v0.2 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT Syndrome v0.1 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 3 607554, Jervell and Lange-Nielsen syndrome 220400, Long QT syndrome 1, 192500, Short QT syndrome 2 609621; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1123 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Mendeliome v0.1123 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Mendeliome v0.1123 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Gene: krit1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.61 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to
Mendeliome v0.1122 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Mendeliome v0.1121 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1120 ACSL4 Zornitza Stark reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889465, 12525535; Phenotypes: Mental retardation, X-linked 63, MIM# 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Callosome v0.68 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Callosome v0.68 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Added comment: Comment when marking as ready: At least three unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Gene: acsl4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1833 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD
Intellectual disability syndromic and non-syndromic v0.1832 ACSL4 Zornitza Stark Publications for gene: ACSL4 were set to
Intellectual disability syndromic and non-syndromic v0.1831 ACSL4 Zornitza Stark Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Callosome v0.68 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Callosome v0.67 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Callosome v0.66 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.65 RBBP8 Zornitza Stark Classified gene: RBBP8 as Red List (low evidence)
Callosome v0.65 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Red List (Low Evidence).
Callosome v0.64 RBBP8 Zornitza Stark reviewed gene: RBBP8: Rating: RED; Mode of pathogenicity: None; Publications: 21998596; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 ACVRL1 Bryony Thompson Marked gene: ACVRL1 as ready
Vascular Malformations_Germline v0.60 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.60 TEK Bryony Thompson Marked gene: TEK as ready
Vascular Malformations_Germline v0.60 TEK Bryony Thompson Gene: tek has been classified as Green List (High Evidence).
Mendeliome v0.1120 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Mendeliome v0.1120 RBBP8 Zornitza Stark Added comment: Comment when marking as ready: Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Additional variant in ClinVar, so overall rating Green.
Mendeliome v0.1120 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Mendeliome v0.1120 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Mendeliome v0.1119 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to 21998596
Mendeliome v0.1118 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Mendeliome v0.1117 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.39 CLDN1 Bryony Thompson gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN1 were set to 12164927; 11889141; 29146216
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Review for gene: CLDN1 was set to GREEN
Added comment: A rare syndromic ichthyosis that has been reported ~15 cases with at least 3 different variants since 2004. A Cldn1 null mouse has an abnormal epidermal barrier.
Sources: Literature
Mendeliome v0.1116 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Mendeliome v0.1116 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Mendeliome v0.1116 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM#122470
Mendeliome v0.1115 NIPBL Zornitza Stark Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1830 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Intellectual disability syndromic and non-syndromic v0.1829 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1829 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1828 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type
Intellectual disability syndromic and non-syndromic v0.1827 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1826 HUWE1 Zornitza Stark reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Turner type; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1114 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Mendeliome v0.1114 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Mendeliome v0.1114 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome
Mendeliome v0.1113 HUWE1 Zornitza Stark Publications for gene: HUWE1 were set to
Mendeliome v0.1112 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1111 FLNA Zornitza Stark Marked gene: FLNA as ready
Mendeliome v0.1111 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Mendeliome v0.1111 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to ?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia
Mendeliome v0.1110 FLNA Zornitza Stark Publications for gene: FLNA were set to
Mendeliome v0.1109 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ichthyosis and Porokeratosis v0.38 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 30359777; 24986372
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395
Review for gene: GTF2H5 was set to AMBER
Added comment: Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1826 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138; LAMA2-related muscular dystrophy (suggested by PMID: 30055037)
Intellectual disability syndromic and non-syndromic v0.1825 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Intellectual disability syndromic and non-syndromic v0.1824 LAMA2 Zornitza Stark Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1108 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Mendeliome v0.1108 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Mendeliome v0.1108 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
Mendeliome v0.1107 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1106 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Mendeliome v0.1106 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Mendeliome v0.1106 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Mendeliome v0.1105 DNAH11 Zornitza Stark Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1104 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Mendeliome v0.1104 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Mendeliome v0.1104 ELOVL1 Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Mendeliome v0.1103 ELOVL1 Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1102 ELOVL1 Zornitza Stark reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.37 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 9012405; 28913623
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive MIM#616390
Review for gene: ERCC3 was set to RED
Added comment: Gene has been reported to cause a syndromic ichthyosis, but there is only one report of ichthyosis in a single case. Ichthyosis is more prevalent in Trichothiodystrophy 1, which is caused by ERCC2.
Sources: Literature
Ichthyosis and Porokeratosis v0.36 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Ichthyosis and Porokeratosis v0.36 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.36 ELOVL1 Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527
Ichthyosis and Porokeratosis v0.35 ELOVL1 Zornitza Stark Publications for gene: ELOVL1 were set to
Ichthyosis and Porokeratosis v0.34 ELOVL1 Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1102 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Mendeliome v0.1102 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Mendeliome v0.1102 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Mendeliome v0.1101 CLDN10 Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1100 CLDN10 Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.33 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Ichthyosis and Porokeratosis v0.33 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.33 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)
Ichthyosis and Porokeratosis v0.32 CLDN10 Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.32 SUMF1 Bryony Thompson gene: SUMF1 was added
gene: SUMF1 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 30124108; 28566233; 25222778; 24339620
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis
Review for gene: SUMF1 was set to GREEN
Added comment: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder with ichthyosis as a prominent feature. >3 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Marked gene: EBP as ready
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Added comment: Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1823 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1822 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.1821 EBP Zornitza Stark Tag somatic tag was added to gene: EBP.
Intellectual disability syndromic and non-syndromic v0.1821 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ichthyosis and Porokeratosis v0.31 EBP Zornitza Stark Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant MIM#302960 to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome
Ichthyosis and Porokeratosis v0.30 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Ichthyosis and Porokeratosis v0.30 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.29 SULT2B1 Bryony Thompson reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14 MIM#617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.53 CACNA2D3 Zornitza Stark Marked gene: CACNA2D3 as ready
Autism v0.53 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Autism v0.53 CACNA2D3 Zornitza Stark Publications for gene: CACNA2D3 were set to
Autism v0.52 CACNA2D3 Zornitza Stark Classified gene: CACNA2D3 as Red List (low evidence)
Autism v0.52 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Marked gene: CACNA2D3 as ready
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association.
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Autism v0.51 CACNA2D3 Zornitza Stark reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: 31275518, 22542183, 23375656; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1100 CACNA2D3 Zornitza Stark Publications for gene: CACNA2D3 were set to
Ichthyosis and Porokeratosis v0.29 ST14 Bryony Thompson gene: ST14 was added
gene: ST14 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 17273967; 18843291; 18445049; 30982314
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Review for gene: ST14 was set to GREEN
Added comment: >3 families with biallelic variants reported.
Sources: Expert list
Mendeliome v0.1099 CACNA2D3 Zornitza Stark Classified gene: CACNA2D3 as Red List (low evidence)
Mendeliome v0.1099 CACNA2D3 Zornitza Stark Gene: cacna2d3 has been classified as Red List (Low Evidence).
Mendeliome v0.1098 CSTA Zornitza Stark Marked gene: CSTA as ready
Mendeliome v0.1098 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Mendeliome v0.1098 CSTA Zornitza Stark Phenotypes for gene: CSTA were changed from to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis
Mendeliome v0.1097 CSTA Zornitza Stark Publications for gene: CSTA were set to
Mendeliome v0.1096 CSTA Zornitza Stark Mode of inheritance for gene: CSTA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1095 CSTA Zornitza Stark reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944047, 23534700, 25400170; Phenotypes: Peeling skin syndrome 4 MIM#607936, exfoliative ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.28 CSTA Zornitza Stark Marked gene: CSTA as ready
Ichthyosis and Porokeratosis v0.28 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.28 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Ichthyosis and Porokeratosis v0.28 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Desmosomal disorders v0.4 CDSN Zornitza Stark Marked gene: CDSN as ready
Desmosomal disorders v0.4 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Desmosomal disorders v0.4 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Desmosomal disorders v0.3 CDSN Zornitza Stark Publications for gene: CDSN were set to
Desmosomal disorders v0.2 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Desmosomal disorders v0.1 CDSN Zornitza Stark reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1095 CDSN Zornitza Stark Marked gene: CDSN as ready
Mendeliome v0.1095 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Mendeliome v0.1095 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Ichthyosis and Porokeratosis v0.27 SPINK5 Bryony Thompson gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 10712206; 15590704; 31977080
Phenotypes for gene: SPINK5 were set to Netherton syndrome MIM#256500
Review for gene: SPINK5 was set to GREEN
Added comment: Netherton syndrome is a severe autosomal recessive disorder characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. >3 families reported and an animal model recapitulating the phenotype.
Sources: Expert list
Mendeliome v0.1094 CDSN Zornitza Stark Publications for gene: CDSN were set to
Mendeliome v0.1093 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1092 CDSN Zornitza Stark reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.26 CDSN Zornitza Stark Marked gene: CDSN as ready
Ichthyosis and Porokeratosis v0.26 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.26 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Ichthyosis and Porokeratosis v0.26 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Mendeliome v0.1092 CASP14 Zornitza Stark Marked gene: CASP14 as ready
Mendeliome v0.1092 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1092 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Mendeliome v0.1092 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1091 CASP14 Zornitza Stark gene: CASP14 was added
gene: CASP14 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP14 were set to 27494380; 23014340; 17515931
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Review for gene: CASP14 was set to AMBER
Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert Review
Ichthyosis and Porokeratosis v0.25 CASP14 Zornitza Stark Marked gene: CASP14 as ready
Ichthyosis and Porokeratosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.25 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.25 CASP14 Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v0.25 CASP14 Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Marked gene: LIPE as ready
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Mendeliome v0.1090 LIPE Zornitza Stark Marked gene: LIPE as ready
Mendeliome v0.1090 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Mendeliome v0.1090 LIPE Zornitza Stark Classified gene: LIPE as Green List (high evidence)
Mendeliome v0.1090 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy_Lipoatrophy v0.3 LIPE Zornitza Stark Publications for gene: LIPE were set to
Lipodystrophy_Lipoatrophy v0.2 LIPE Zornitza Stark Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Mendeliome v0.1089 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Mendeliome v0.1088 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Mendeliome v0.1087 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.24 SLC27A4 Bryony Thompson gene: SLC27A4 was added
gene: SLC27A4 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A4 were set to 12697906; 19631310; 31168818
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome MIM#608649
Review for gene: SLC27A4 was set to GREEN
Added comment: >3 families reported
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1821 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Intellectual disability syndromic and non-syndromic v0.1820 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Intellectual disability syndromic and non-syndromic v0.1819 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1818 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.23 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Ichthyosis and Porokeratosis v0.23 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.23 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.23 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Mendeliome v0.1086 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Mendeliome v0.1086 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1818 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Intellectual disability syndromic and non-syndromic v0.1817 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Intellectual disability syndromic and non-syndromic v0.1816 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1086 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Mendeliome v0.1086 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Mendeliome v0.1086 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma
Mendeliome v0.1085 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Mendeliome v0.1084 ABHD5 Zornitza Stark Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1083 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erithroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.22 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Ichthyosis and Porokeratosis v0.22 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.22 ABHD5 Zornitza Stark Classified gene: ABHD5 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.22 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Green List (High Evidence).
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Mendeliome v0.1083 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Mendeliome v0.1082 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Ichthyosis and Porokeratosis v0.21 SERPINB8 Bryony Thompson reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1081 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1080 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1815 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Intellectual disability syndromic and non-syndromic v0.1814 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Ichthyosis and Porokeratosis v0.21 SDR9C7 Bryony Thompson gene: SDR9C7 was added
gene: SDR9C7 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 MIM#617574
Review for gene: SDR9C7 was set to GREEN
Added comment: Three homozygous variants in 4 families with congenital ichthyosis.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1813 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1812 TUBGCP6 Zornitza Stark reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 22279524; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.78 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Microcephaly v0.78 TUBGCP6 Zornitza Stark Added comment: Comment when marking as ready: Originally reported in Mennonite families (founder effect) but three unrelated families reported subsequently.
Microcephaly v0.78 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Microcephaly v0.78 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270
Microcephaly v0.77 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Microcephaly v0.76 TUBGCP6 Zornitza Stark Mode of inheritance for gene: TUBGCP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Marked gene: GNAS as ready
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1812 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia (103580); Pseudohypoparathyroidism Ib (603233); Pseudohypoparathyroidism Ic (612462); Pseudopseudohypoparathyroidism (612463)
Intellectual disability syndromic and non-syndromic v0.1811 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1080 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Mendeliome v0.1079 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Mendeliome v0.1078 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1077 MYT1L Zornitza Stark reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28859103; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1810 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Intellectual disability syndromic and non-syndromic v0.1809 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Intellectual disability syndromic and non-syndromic v0.1808 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Mitochondrial disease v0.42 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.41 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299, Leigh-like presentation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1077 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mendeliome v0.1077 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Mendeliome v0.1077 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Mendeliome v0.1076 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1075 ARSA Zornitza Stark Marked gene: ARSA as ready
Mendeliome v0.1075 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Mendeliome v0.1075 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM#250100
Mendeliome v0.1074 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.20 POMP Bryony Thompson reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.20 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYH were set to 25604618; 9326940
Phenotypes for gene: PHYH were set to Refsum disease MIM#266500
Review for gene: PHYH was set to RED
Added comment: Ichthyosis is reported as a variable feature of Refsum disease. However, ichthyosis is only reported in a single case with biallelic PHYH variants. This finding is present in a minority of affected individuals, and is not the main diagnostic feature.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Intellectual disability syndromic and non-syndromic v0.1807 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Mendeliome v0.1073 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Mendeliome v0.1073 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1806 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Mendeliome v0.1073 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal to Myopathy, actin, congenital, with cores, MIM#161800; Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Myopathy, congenital, with fiber-type disproportion 1, MIM#255310; Nemaline myopathy 3, MIM#161800; ?Myopathy, scapulohumeroperoneal
Mendeliome v0.1072 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal
Mendeliome v0.1071 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to
Mendeliome v0.1070 ACTA1 Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.19 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 12522768
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B MIM#614879
Review for gene: PEX7 was set to RED
Added comment: Ichthyosis is reported as a variable finding of Refsum disease, but it has not been reported in cases with PEX7 biallelic variants.
Sources: Expert list
Ichthyosis and Porokeratosis v0.18 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: NSDHL 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: NSDHL were set to 10710235; 26459993
Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Congenital hemidysplasia with ichthyosiform nevus and limb defects
Review for gene: NSDHL was set to GREEN
Added comment: Ichthyosis is a feature of the syndrome. >3 unrelated families/cases have been reported.
Sources: Expert list
Ichthyosis and Porokeratosis v0.17 MBTPS2 Bryony Thompson gene: MBTPS2 was added
gene: MBTPS2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 19361614; 21426410
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205; follicular ichthyosis; atrichia of the scalp; photophobia
Review for gene: MBTPS2 was set to GREEN
Added comment: Ichthyosis is part of the IFAP triad that is used to diagnose the syndrome. >3 unrelated families/males reported.
Sources: Expert list
Ichthyosis and Porokeratosis v0.16 KDSR Bryony Thompson gene: KDSR was added
gene: KDSR was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589
Phenotypes for gene: KDSR were set to Harlequin ichthyosis
Review for gene: KDSR was set to AMBER
Added comment: Two unrelated cases with harlequin ichthyosis and thrombocytopenia. These are the only reports associated with ichthyosis, more cases have been reported with palmoplantar keratoderma and erythrokeratoderma.
Sources: Expert list
Ichthyosis and Porokeratosis v0.15 GJB4 Bryony Thompson reviewed gene: GJB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 2 MIM#617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and Porokeratosis v0.15 GJB3 Bryony Thompson reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrokeratodermia variabilis et progressiva 1 MIM#133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.15 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 11912510
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210
Review for gene: GJB2 was set to GREEN
Added comment: Ichthyosis can be prominent feature of some of the conditions caused by this gene. >3 unrelated cases have been reported. Mostly de novo variants have been reported in association with ichthyosis.
Sources: Expert list
Ichthyosis and Porokeratosis v0.14 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 9651581; 30580289; 27862069; 25002996; 20944642
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS)
Review for gene: ERCC2 was set to GREEN
Added comment: Ichthyosis can be a feature of the condition, and has been reported in >3 unrelated families. Mouse model recapitulates phenotype including skin abnormalities. Trichothiodystrophy 1has been characterised as a syndromic ichthyosis
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1805 KIF1A Michelle Torres reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28970574, PMID: 22258533, PMID 31488895, PMID 31512412; Phenotypes: 1. Mental retardation, autosomal dominant 9 614255 AD, 2. Neuropathy, hereditary sensory, type IIC 614213 AR, 3. Spastic paraplegia 30, autosomal recessive 610357 AR, 4. Hereditary spastic paraplegia, AD (PMID 31488895), 5. Rett syndrome (typical) AD (PMID 31512412); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT Syndrome v0.1 KCNQ1 Michelle Torres reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301308; Phenotypes: 1. Atrial fibrillation, familial, 3 607554 AD, 2. Jervell and Lange-Nielsen syndrome 220400 AR, 3. Long QT syndrome 1 192500 AD, 4. Short QT syndrome 2 609621 AD, 5. {Long QT syndrome 1, acquired, susceptibility to} 192500 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 KRIT1 Ee Ming Wong reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29593473, PMID: 16571644; Phenotypes: 1. Cavernous malformations of CNS and retina, 116860, AD, 2. Cerebral cavernous malformations-1, 116860, AD, 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1805 ACSL4 Michelle Torres reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:12525535; Phenotypes: 1. Mental retardation, X-linked 63 300387 XLD; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 RBBP8 Elena Savva reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21998596; Phenotypes: Jawad syndrome, Seckel syndrome 2, Pancreatic carcinoma, somatic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 NIPBL Elena Savva reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.1805 CAMTA1 Michelle Torres reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1069 HUWE1 Elena Savva reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30797980, 29180823; Phenotypes: Mental retardation, X-linked syndromic, Turner type, Say-Meyer syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 FLNA Elena Savva reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30089473; Phenotypes: ?FG syndrome 2, XL, Cardiac valvular dysplasia, X-linked, Congenital short bowel syndrome, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, 1, Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome, Otopalatodigital syndrome, type I, Otopalatodigital syndrome, type II, Terminal osseous dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1069 LIPE Kristin Rigbye gene: LIPE was added
gene: LIPE was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Review for gene: LIPE was set to GREEN
gene: LIPE was marked as current diagnostic
Added comment: LIPE is confirmed to be associated with partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1805 LAMA2 Michelle Torres reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30055037; Phenotypes: 1) Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 AR 2), Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 AR, 3 LAMA2-related muscular dystrophy (suggested by PMID: 30055037); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 WDR35 Elena Savva reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1069 DNAH11 Elena Savva reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.13 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ichthyosis and Porokeratosis v0.12 ELOVL1 Bryony Thompson Deleted their comment
Ichthyosis and Porokeratosis v0.12 ELOVL1 Bryony Thompson edited their review of gene: ELOVL1: Added comment: Ichthyosis is a prominent feature of the condition. 2 unrelated cases with an identical heterozygous de novo ELOVL1 mutation (c.494C>T, NM_001256399; p.S165F) not deriving from a founder allele. Enzyme activity abrogated in patient cells. Elovl1 -/- mice died shortly after birth due to epidermal barrier defects. Reduced very long chain fatty acids were reduced in tissues.; Changed publications: 30487246, 29496980, 23689133
Mendeliome v0.1069 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Intellectual disability syndromic and non-syndromic v0.1805 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1068 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Mendeliome v0.1068 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.12 ELOVL1 Bryony Thompson reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30487246, 29496980; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1804 IRF2BPL Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1068 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Mendeliome v0.1068 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Mendeliome v0.1068 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Mendeliome v0.1068 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Mendeliome v0.1068 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontiaDeafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Mendeliome v0.1067 FGF3 Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1066 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Mendeliome v0.1065 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Mendeliome v0.1064 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.12 CLDN10 Bryony Thompson reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM#270400
Skeletal Dysplasia_Fetal v0.13 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.41 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Mitochondrial disease v0.41 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.41 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Mendeliome v0.1063 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Intellectual disability syndromic and non-syndromic v0.1804 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Mitochondrial disease v0.40 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Mendeliome v0.1062 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Mendeliome v0.1061 IARS Zornitza Stark Marked gene: IARS as ready
Mendeliome v0.1061 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Mitochondrial disease v0.40 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.39 LONP1 Zornitza Stark reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636596; Phenotypes: CODAS syndrome, MIM#600373, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1803 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from to Mental retardation syndrome, X-linked, Siderius type, MIM#300263
Mendeliome v0.1061 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Mendeliome v0.1060 PHF8 Zornitza Stark Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ichthyosis and Porokeratosis v0.12 EBP Bryony Thompson gene: EBP was added
gene: EBP was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: EBP 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: EBP were set to 10391218; 30135486; 25846959
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant MIM#302960
Review for gene: EBP was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition. Mouse model recapitulates phenotype of condition. >3 unrelated cases/families with condition
Sources: Expert list
Mendeliome v0.1059 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1802 PHF8 Zornitza Stark Mode of inheritance for gene: PHF8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1801 PHF8 Zornitza Stark reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661819, 17594395, 16199551; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Added comment: Comment when marking as ready: Joint stiffness and limitations described as part of the phenotype.
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Mendeliome v0.1059 IARS Zornitza Stark Publications for gene: IARS were set to
Mendeliome v0.1058 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Mendeliome v0.1058 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Mendeliome v0.1058 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Mendeliome v0.1057 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Mendeliome v0.1056 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Marked gene: IARS as ready
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1801 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Mendeliome v0.1055 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 IARS Zornitza Stark Marked gene: IARS as ready
Cholestasis v0.6 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1800 IARS Zornitza Stark Publications for gene: IARS were set to
Intellectual disability syndromic and non-syndromic v0.1799 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1798 IARS Zornitza Stark reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.21 TUBA1A Zornitza Stark Publications for gene: TUBA1A were set to
Cholestasis v0.6 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Arthrogryposis v0.21 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Arthrogryposis v0.20 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Lissencephaly and Band Heterotopia v0.20 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM#611603
Cholestasis v0.5 IARS Zornitza Stark Publications for gene: IARS were set to
Cholestasis v0.4 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.19 TUBA1A Zornitza Stark Mode of pathogenicity for gene: TUBA1A was changed from to Other
Lissencephaly and Band Heterotopia v0.18 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 CACNA2D3 Michelle Torres reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31275518, PMID: 22542183, PMID: 23375656; Phenotypes: NA; Mode of inheritance: Unknown
Ichthyosis and Porokeratosis v0.11 CSTA Bryony Thompson gene: CSTA was added
gene: CSTA was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 21944047; 23534700; 25400170
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis
Review for gene: CSTA was set to GREEN
Added comment: Exfoliative ichthyosis is a prominent feature of the condition. >3 unrelated families reported.
Sources: Expert list
Ichthyosis and Porokeratosis v0.10 CDSN Bryony Thompson gene: CDSN was added
gene: CDSN was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 24794518; 18436651; 20691404; 21191406
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma
Review for gene: CDSN was set to GREEN
Added comment: At least 3 unrelated families reported with biallelic/homozygous variants. Cdsn -/- mice died within several hours after birth with skin defects consistent with dehydration caused by defective skin barrier function.
Sources: Expert list
Ichthyosis and Porokeratosis v0.9 CASP14 Bryony Thompson gene: CASP14 was added
gene: CASP14 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP14 were set to 27494380; 23014340; 17515931
Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320
Review for gene: CASP14 was set to AMBER
Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features.
Sources: Expert list
Lipodystrophy_Lipoatrophy v0.1 LIPE Kristin Rigbye changed review comment from: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.; to: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Lipodystrophy_Lipoatrophy v0.1 LIPE Kristin Rigbye reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27862896, 25475467, 24848981; Phenotypes: Lipodystrophy, familial partial, type 6, 615980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.8 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Review for gene: ALDH3A2 was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition, and >30 biallelic variant carriers have been reported
Sources: Expert list
Ichthyosis and Porokeratosis v0.7 ABHD5 Bryony Thompson gene: ABHD5 was added
gene: ABHD5 was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 30795549
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma
Review for gene: ABHD5 was set to GREEN
Added comment: Ichthyosis is a prominent feature of the condition, and >80 cases have been reported with biallelic ABHD5 variants.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1798 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Autism v0.51 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Autism v0.51 SOX5 Zornitza Stark Added comment: Comment when marking as ready: Note many cases reported of intragenic deletion.
Autism v0.51 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Autism v0.51 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Autism v0.50 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803
Intellectual disability syndromic and non-syndromic v0.1797 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Intellectual disability syndromic and non-syndromic v0.1796 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.49 SOX5 Zornitza Stark Publications for gene: SOX5 were set to 31578471
Intellectual disability syndromic and non-syndromic v0.1795 SOX5 Zornitza Stark reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31578471; Phenotypes: Lamb-Shaffer syndrome, MIM#616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.48 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Autism v0.47 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.7 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Rasopathy v0.7 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Rasopathy v0.7 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Noonan syndrome 10; Noonan syndrome 2
Rasopathy v0.6 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to
Rasopathy v0.5 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rasopathy v0.4 LZTR1 Zornitza Stark reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres Deleted their review
Microcephaly v0.75 TUBGCP6 Michelle Torres reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.112 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from to Noonan syndrome 10; Noonan syndrome 2; {Schwannomatosis-2, susceptibility to}
Hydrops fetalis v0.111 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to
Hydrops fetalis v0.110 LZTR1 Zornitza Stark Mode of pathogenicity for gene: LZTR1 was changed from to Other
Hydrops fetalis v0.109 LZTR1 Zornitza Stark Mode of inheritance for gene: LZTR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1795 GNAS Michelle Torres reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29072892; Phenotypes: 1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations, 2. McCune-Albright syndrome, somatic, mosaic (174800), 3. Osseous heteroplasia, progressive (166350) AD, 4. Pituitary adenoma 3, multiple types, somatic (617686), 5. Pseudohypoparathyroidism Ia (103580) AD, 6. Pseudohypoparathyroidism Ib (603233) AD, 7. Pseudohypoparathyroidism Ic (612462) AD, 8. Pseudopseudohypoparathyroidism (612463) AD; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1795 MYT1L Michelle Torres reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 39 616521 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 SLC52A1 Kristin Rigbye Deleted their comment
Motor Neurone Disease v0.2 SLC52A1 Kristin Rigbye Deleted their comment
Mendeliome v0.1054 PTCH2 Kristin Rigbye Deleted their comment
Macrocephaly_Megalencephaly v0.12 PTCH2 Kristin Rigbye Deleted their comment
Mendeliome v0.1054 LIPT1 Elena Savva reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ARSA Elena Savva reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 ACTA1 Elena Savva reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19562689, 15236405; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3, ?Myopathy, scapulohumeroperoneal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1054 FGF3 Elena Savva Deleted their review
Mendeliome v0.1054 FGF3 Elena Savva reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia; Mode of inheritance: None
Autism v0.46 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Autism v0.46 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Autism v0.46 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788
Overgrowth v0.11 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Overgrowth v0.11 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Overgrowth v0.11 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Overgrowth v0.10 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788
Autism v0.45 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Mendeliome v0.1054 IRF2BPL Elena Savva reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autism v0.44 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.9 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Mendeliome v0.1054 KMT5B Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.12 DHCR7 Elena Savva reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Overgrowth v0.8 KMT5B Zornitza Stark reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51, MIM#617788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1054 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51
Mendeliome v0.1053 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.10 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Paroxysmal Dyskinesia v0.9 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1795 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Intellectual disability syndromic and non-syndromic v0.1794 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Paroxysmal Dyskinesia v0.8 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Paroxysmal Dyskinesia v0.7 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1793 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Paroxysmal Dyskinesia v0.6 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1792 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.1791 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1052 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Mendeliome v0.1052 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Mendeliome v0.1052 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Mendeliome v0.1051 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Intellectual disability syndromic and non-syndromic v0.1790 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1050 KMT5B Elena Savva reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1050 LONP1 Elena Savva reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.19 ADAMTS10 Elena Savva reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18567016; Phenotypes: Weill-Marchesani syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1050 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Mendeliome v0.1049 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1048 GNAO1 Zornitza Stark reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.557 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Genetic Epilepsy v0.557 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.557 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements
Cholestasis v0.3 IARS Elena Savva reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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)