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Mendeliome v0.4500 RREB1 Zornitza Stark Gene: rreb1 has been classified as Red List (Low Evidence).
Mendeliome v0.4500 RREB1 Zornitza Stark gene: RREB1 was added
gene: RREB1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: RREB1.
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RREB1 were set to 32938917
Phenotypes for gene: RREB1 were set to Noonan syndrome-like disorder
Review for gene: RREB1 was set to RED
Added comment: Single individual reported with Noonan syndrome-like features and a deletion encompassing RREB1. Overlapping deletions in publicly reported databases examined, and RREB1 postulated to be the key gene. Rreb1 hemizygous mice display orbital hypertelorism and age dependent cardiac hypertrophy. RREB1 recruits SIN3A and KDM1A to an RRE in target promoters in human and murine cells to control histone H3K4 methylation of MAPK pathway genes.

In summary, single well phenotyped individual with a CNV and experimental data to support gene-disease association.
Sources: Literature
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Combined Immunodeficiency v0.165 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.164 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.68 ZMYM2 Konstantinos Varvagiannis gene: ZMYM2 was added
gene: ZMYM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly
Penetrance for gene: ZMYM2 were set to unknown
Review for gene: ZMYM2 was set to GREEN
Added comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.

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Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].

Affected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.

14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.

The human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT.

ZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body).

It has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.

The authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3013 ZMYM2 Konstantinos Varvagiannis gene: ZMYM2 was added
gene: ZMYM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly
Penetrance for gene: ZMYM2 were set to unknown
Review for gene: ZMYM2 was set to AMBER
Added comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.

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Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].

Affected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.

14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.

The human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT.

ZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body).

It has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.

The authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT).
Sources: Literature
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.11 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.10 FNIP1 Zornitza Stark gene: FNIP1 was added
gene: FNIP1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Mendeliome v0.4499 FNIP1 Zornitza Stark Marked gene: FNIP1 as ready
Mendeliome v0.4499 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Mendeliome v0.4499 FNIP1 Zornitza Stark Classified gene: FNIP1 as Green List (high evidence)
Mendeliome v0.4499 FNIP1 Zornitza Stark Gene: fnip1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Marked gene: NEMF as ready
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Hereditary Neuropathy v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.78 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Marked gene: NEMF as ready
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3013 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3012 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Mendeliome v0.4498 NEMF Zornitza Stark Marked gene: NEMF as ready
Mendeliome v0.4498 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Mendeliome v0.4498 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Mendeliome v0.4498 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Mendeliome v0.4497 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Mendeliome v0.4496 FNIP1 Arina Puzriakova gene: FNIP1 was added
gene: FNIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to 32181500; 32905580
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia
Review for gene: FNIP1 was set to GREEN
Added comment: - PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.23 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.124 DSTYK Zornitza Stark Tag SV/CNV tag was added to gene: DSTYK.
Tag founder tag was added to gene: DSTYK.
Hereditary Spastic Paraplegia v0.124 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Hereditary Spastic Paraplegia v0.124 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.124 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750; Spastic paraplegia 23, 270750, AR to Spastic paraplegia 23, MIM#270750
Hereditary Spastic Paraplegia v0.123 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Hereditary Spastic Paraplegia v0.122 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.121 DSTYK Zornitza Stark Classified gene: DSTYK as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.121 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.120 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4496 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Mendeliome v0.4496 TAOK1 Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence).
Mendeliome v0.4496 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from to TAOK1-related neurodevelopmental disorder
Mendeliome v0.4495 TAOK1 Zornitza Stark Publications for gene: TAOK1 were set to
Mendeliome v0.4494 TAOK1 Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4493 TAOK1 Zornitza Stark changed review comment from: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia. Most were LOF, 2 missense. 3 had macrocephaly.; to: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia; 3 had macrocephaly.
Mendeliome v0.4493 TAOK1 Zornitza Stark reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: TAOK1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4493 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Mendeliome v0.4493 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Mendeliome v0.4493 CSF1R Zornitza Stark Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476); Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820)
Mendeliome v0.4492 CSF1R Zornitza Stark Publications for gene: CSF1R were set to
Mendeliome v0.4491 CSF1R Zornitza Stark Mode of pathogenicity for gene: CSF1R was changed from to Other
Mendeliome v0.4490 CSF1R Zornitza Stark Mode of inheritance for gene: CSF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4489 TAOK1 Elena Savva reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31230721; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4489 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Mendeliome v0.4489 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Mendeliome v0.4489 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, MIM#236792
Mendeliome v0.4488 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Mendeliome v0.4487 L2HGDH Zornitza Stark Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4486 L2HGDH Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15385440; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4486 CSF1R Elena Savva reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31330095, 24336230; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476), Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4486 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Mendeliome v0.4486 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Mendeliome v0.4486 LMNB1 Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4485 LMNB1 Zornitza Stark Mode of pathogenicity for gene: LMNB1 was changed from to Other
Mendeliome v0.4484 LMNB1 Zornitza Stark Publications for gene: LMNB1 were set to
Mendeliome v0.4483 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from to Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Mendeliome v0.4482 LMNB1 Zornitza Stark Tag SV/CNV tag was added to gene: LMNB1.
Mendeliome v0.4482 LMNB1 Zornitza Stark reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32910914, 16951681, 19151023; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.483 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Microcephaly v0.483 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Microcephaly v0.483 LMNB1 Zornitza Stark Classified gene: LMNB1 as Green List (high evidence)
Microcephaly v0.483 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Microcephaly v0.482 LMNB1 Zornitza Stark gene: LMNB1 was added
gene: LMNB1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 32910914
Phenotypes for gene: LMNB1 were set to Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis
Mode of pathogenicity for gene: LMNB1 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: LMNB1 was set to GREEN
Added comment: Cristofoli et al (2020 - PMID: 32910914) report 7 individuals (from 5 families) harboring mostly de novo LMNB1 variants. The common phenotype consisted of primary microcephaly (7/7 ranging from -4.4 to -10 SD), DD/ID (7/7), relative short stature in most (+0.7 to -4 SD). Additional features included brain MRI abnormalities (abnormal CC in 3, simplified gyral pattern in 3, small structurally normal brain, etc), seizures (4 individuals from 2 families), limb spasticity (1/7), cortical visual impairment (in 3), feeding difficulties (5/7), scoliosis (4/7). Non-overlapping dysmorphic features were reported in some. Variants were identified by WES or custom-designed gene panel and included 3 missense variants, 1 in-frame deletion and a splice variant. The in-frame deletion was inherited from a similarly affected parent in whom the variant occurred as a dn event. The splice SNV(NM_005573.3:c.939+1G>A) occurred in 3 sibs and was present as mosaic variant (15%) in the parent. This variant was predicted to result to extension of exon 5 by 6 amino-acids (samples were unavailable for mRNA studies). LMNB1 encodes a B-type lamin (the other being encoded by LMNB2). A- and B- type lamins are major components of the nuclear lamina. As the authors comment, LMNB1 is expressed in almost all cell types beginning at the earliest stages of development. Lamin-deficient mouse models support an essential role of B-type lamins in organogenesis, neuronal migration, patterning during brain development. Functional studies performed, demonstrated impaired formation of LMNB1 nuclear lamina in LMNB1-null HeLa cells transfected with cDNAs for 3 missense variants. Two variants (Lys33Glu/Arg42Trp) were shown to result in decreased nuclear localization with increased abundance in the cytosolic fraction. In patient derived LCLs these variants led to abnormal nuclear morphology. A missense variant in another domain (Ala152Gly - 1st coil domain) resulted also in lower abundance of lamin B1, irregular lamin A/C nuclear lamina, as well as more condensed nuclei (HeLa cells). LMNB1 duplications or missense mutations increasing LMNB1 expression are associated with a different presentation of AD leuodystrophy. A variant previously associated with leukodystrophy (Arg29Trp) was shown to behave differently (present in the nuclear extract but not in the cytosol, lamin B1 to A/C ratio in nuclear extract was not significantly altered compared to wt as was the case for Arg42Trp, Lys33Glu). Given the pLI score of 0.55 as well as the phenotype of individuals with deletions (not presenting microcephaly) the authors predict that a dominant-negative effect applies (rather than haploinsufficiency).
Sources: Literature
Mendeliome v0.4482 L2HGDH Elena Savva reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Added comment: Comment when marking as ready: Note different mechanism for LMNB1-related neurodevelopmental phenotype cf Adult-onset leukodystrophy phenotype previously associated with this gene.
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.862 LMNB1 Zornitza Stark Mode of pathogenicity for gene: LMNB1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.861 LMNB1 Zornitza Stark Classified gene: LMNB1 as Amber List (moderate evidence)
Genetic Epilepsy v0.861 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Marked gene: LMNB1 as ready
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Added comment: Comment when marking as ready: Note different mechanism for LMNB1-related neurodevelopmental phenotype cf Adult-onset leukodystrophy phenotype previously associated with this gene.
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3011 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500
Intellectual disability syndromic and non-syndromic v0.3010 LMNB1 Zornitza Stark Publications for gene: LMNB1 were set to
Intellectual disability syndromic and non-syndromic v0.3009 LMNB1 Zornitza Stark Mode of pathogenicity for gene: LMNB1 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 v0.3008 LMNB1 Zornitza Stark Classified gene: LMNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3008 LMNB1 Zornitza Stark Gene: lmnb1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Marked gene: MAPK8 as ready
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Classified gene: MAPK8 as Amber List (moderate evidence)
Aortopathy_Connective Tissue Disorders v0.162 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.161 MAPK8 Zornitza Stark gene: MAPK8 was added
gene: MAPK8 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8 were set to 31784499
Phenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders
Review for gene: MAPK8 was set to AMBER
Added comment: PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells.

Single family with high level of supportive functional data.
Sources: Literature
Mendeliome v0.4482 MAPK8 Zornitza Stark reviewed gene: MAPK8: Rating: AMBER; Mode of pathogenicity: None; Publications: 31784499; Phenotypes: Chronic mucocutaneous candidiasis, Connective tissue disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4482 MAPK8 Zornitza Stark Marked gene: MAPK8 as ready
Mendeliome v0.4482 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4482 MAPK8 Zornitza Stark Classified gene: MAPK8 as Amber List (moderate evidence)
Mendeliome v0.4482 MAPK8 Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Marked gene: CTNNBL1 as ready
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Classified gene: CTNNBL1 as Amber List (moderate evidence)
Mendeliome v0.4481 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.860 LMNB1 Konstantinos Varvagiannis edited their review of gene: LMNB1: Changed mode of pathogenicity: 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 v0.3007 LMNB1 Konstantinos Varvagiannis edited their review of gene: LMNB1: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.860 LMNB1 Konstantinos Varvagiannis gene: LMNB1 was added
gene: LMNB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB1 were set to 32910914
Phenotypes for gene: LMNB1 were set to Global developmental delay; Intellectual disability; Microcephaly; Short stature; Seizures; Abnormality of the corpus callosum; Cortical gyral simplification; Feeding difficulties; Scoliosis
Penetrance for gene: LMNB1 were set to unknown
Mode of pathogenicity for gene: LMNB1 was set to Other
Review for gene: LMNB1 was set to AMBER
Added comment: Cristofoli et al (2020 - PMID: 32910914) report 7 individuals (from 5 families) harboring mostly de novo LMNB1 variants.

The common phenotype consisted of primary microcephaly (7/7 ranging from -4.4 to -10 SD), DD/ID (7/7), relative short stature in most (+0.7 to -4 SD). Additional features included brain MRI abnormalities (abnormal CC in 3, simplified gyral pattern in 3, small structurally normal brain, etc), seizures (4 individuals from 2 families), limb spasticity (1/7), cortical visual impairment (in 3), feeding difficulties (5/7), scoliosis (4/7). Non-overlapping dysmorphic features were reported in some.

Variants were identified by WES or custom-designed gene panel and included 3 missense variants, 1 in-frame deletion and a splice variant. The in-frame deletion was inherited from a similarly affected parent in whom the variant occurred as a dn event. The splice SNV(NM_005573.3:c.939+1G>A) occurred in 3 sibs and was present as mosaic variant (15%) in the parent. This variant was predicted to result to extension of exon 5 by 6 amino-acids (samples were unavailable for mRNA studies).

LMNB1 encodes a B-type lamin (the other being encoded by LMNB2). A- and B- type lamins are major components of the nuclear lamina. As the authors comment, LMNB1 is expressed in almost all cell types beginning at the earliest stages of development.

Lamin-deficient mouse models support an essential role of B-type lamins in organogenesis, neuronal migration, patterning during brain development.

Functional studies performed, demonstrated impaired formation of LMNB1 nuclear lamina in LMNB1-null HeLa cells transfected with cDNAs for 3 missense variants.

Two variants (Lys33Glu/Arg42Trp) were shown to result in decreased nuclear localization with increased abundance in the cytosolic fraction. In patient derived LCLs these variants led to abnormal nuclear morphology. A missense variant in another domain (Ala152Gly - 1st coil domain) resulted also in lower abundance of lamin B1, irregular lamin A/C nuclear lamina, as well as more condensed nuclei (HeLa cells).

LMNB1 duplications or missense mutations increasing LMNB1 expression are associated with a different presentation of AD leuodystrophy. A variant previously associated with leukodystrophy (Arg29Trp) was shown to behave differently (present in the nuclear extract but not in the cytosol, lamin B1 to A/C ratio in nuclear extract was not significantly altered compared to wt as was the case for Arg42Trp, Lys33Glu).

Given the pLI score of 0.55 as well as the phenotype of individuals with deletions (not presenting microcephaly) the authors predict that a dominant-negative effect applies (rather than haploinsufficiency).

Consider inclusion in the following panels : DD/ID (green), epilepsy (amber - 4 of 7 patients belonging to 2 families), primary microcephaly (green), callosome (amber/green - 3 individuals belonging to 3 families), mendeliome (green), etc.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3007 LMNB1 Konstantinos Varvagiannis edited their review of gene: LMNB1: Changed mode of pathogenicity: Other
Intellectual disability syndromic and non-syndromic v0.3007 LMNB1 Konstantinos Varvagiannis reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32910914; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4480 MAPK8 Arina Puzriakova gene: MAPK8 was added
gene: MAPK8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8 were set to 31784499
Phenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders
Added comment: PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells.
Sources: Literature
Mendeliome v0.4480 CTNNBL1 Arina Puzriakova gene: CTNNBL1 was added
gene: CTNNBL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 32484799
Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Added comment: PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.
Sources: Literature
Hereditary Spastic Paraplegia v0.120 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Hereditary Spastic Paraplegia v0.120 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.120 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome to Harel-Yoon syndrome, MIM# 617183
Hereditary Spastic Paraplegia v0.119 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Hereditary Spastic Paraplegia v0.118 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28158749, 27640307; Phenotypes: Harel-Yoon syndrome, MIM# 617183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.147 ZEB2 Bryony Thompson Marked gene: ZEB2 as ready
Craniosynostosis v0.147 ZEB2 Bryony Thompson Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.147 ZEB2 Bryony Thompson Classified gene: ZEB2 as Amber List (moderate evidence)
Craniosynostosis v0.147 ZEB2 Bryony Thompson Gene: zeb2 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.146 ZEB2 Bryony Thompson Mode of inheritance for gene: ZEB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.145 ZEB2 Bryony Thompson edited their review of gene: ZEB2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.145 ZEB2 Bryony Thompson gene: ZEB2 was added
gene: ZEB2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ZEB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZEB2 were set to 25123255; 18076118
Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome MIM#235730
Review for gene: ZEB2 was set to AMBER
Added comment: Identified 3 unrelated cases with cranionsynostosis as a prominent feature of the condition. However, the last report was in 2014.
Sources: Literature
Craniosynostosis v0.144 SCARF2 Bryony Thompson Marked gene: SCARF2 as ready
Craniosynostosis v0.144 SCARF2 Bryony Thompson Gene: scarf2 has been classified as Red List (Low Evidence).
Craniosynostosis v0.144 SCARF2 Bryony Thompson gene: SCARF2 was added
gene: SCARF2 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARF2 were set to 23808541
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome MIM#600920
Review for gene: SCARF2 was set to RED
Added comment: A single family reported with craniosynostosis as a feature of the condition.
Sources: Literature
Craniosynostosis v0.143 LMX1B Bryony Thompson Marked gene: LMX1B as ready
Craniosynostosis v0.143 LMX1B Bryony Thompson Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.143 LMX1B Bryony Thompson Classified gene: LMX1B as Amber List (moderate evidence)
Craniosynostosis v0.143 LMX1B Bryony Thompson Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.142 LMX1B Bryony Thompson gene: LMX1B was added
gene: LMX1B was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMX1B were set to 29852132; 20643727
Phenotypes for gene: LMX1B were set to Coronal craniosynostosis
Review for gene: LMX1B was set to AMBER
Added comment: A single case reported with p.L203F and craniosynostosis. Supporting mouse model.
Sources: Literature
Craniosynostosis v0.141 IRX5 Bryony Thompson Marked gene: IRX5 as ready
Craniosynostosis v0.141 IRX5 Bryony Thompson Gene: irx5 has been classified as Red List (Low Evidence).
Craniosynostosis v0.141 IRX5 Bryony Thompson gene: IRX5 was added
gene: IRX5 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRX5 were set to 22581230
Phenotypes for gene: IRX5 were set to Hamamy syndrome MIM#611174
Review for gene: IRX5 was set to RED
Added comment: A single consanguineous family reported with craniosynostosis as a feature of the condition.
Sources: Literature
Craniosynostosis v0.140 GPC3 Bryony Thompson Classified gene: GPC3 as Amber List (moderate evidence)
Craniosynostosis v0.140 GPC3 Bryony Thompson Gene: gpc3 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.139 GPC3 Bryony Thompson gene: GPC3 was added
gene: GPC3 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC3 were set to 24115482; 28796105; 19372699
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1 MIM#312870
Review for gene: GPC3 was set to AMBER
Added comment: At least 2 unrelated cases reported with craniosynostosis as a feature of the condition. Supporting in vitro functional assays.
Sources: Literature
Craniosynostosis v0.138 FBN1 Bryony Thompson Classified gene: FBN1 as Green List (high evidence)
Craniosynostosis v0.138 FBN1 Bryony Thompson Gene: fbn1 has been classified as Green List (High Evidence).
Craniosynostosis v0.137 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 8563763; 16596670; 24039054; 27884935
Phenotypes for gene: FBN1 were set to Shprintzen-Goldberg syndrome; Marfan syndrome MIM#154700
Review for gene: FBN1 was set to GREEN
Added comment: At least 5 unrelated cases have been reported, usually de novo with craniosynostosis (coronoal and sagittal) as a feature of the condition.
Sources: Literature
Mendeliome v0.4480 PDIA5 Zornitza Stark Marked gene: PDIA5 as ready
Mendeliome v0.4480 PDIA5 Zornitza Stark Gene: pdia5 has been classified as Red List (Low Evidence).
Mendeliome v0.4480 PDIA5 Zornitza Stark Classified gene: PDIA5 as Red List (low evidence)
Mendeliome v0.4480 PDIA5 Zornitza Stark Gene: pdia5 has been classified as Red List (Low Evidence).
Arthrogryposis v0.211 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Arthrogryposis v0.211 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence).
Arthrogryposis v0.211 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1, MIM# 601680
Arthrogryposis v0.210 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Arthrogryposis v0.209 TNNI2 Zornitza Stark Mode of pathogenicity for gene: TNNI2 was changed from to Other
Arthrogryposis v0.208 TNNI2 Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.207 TNNI2 Zornitza Stark reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17194691, 25340332, 12592607; Phenotypes: Arthrogryposis, distal, type 2B1, MIM# 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4479 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Mendeliome v0.4479 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence).
Mendeliome v0.4479 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from to Arthrogryposis, distal, type 2B1 (MIM#601680)
Mendeliome v0.4478 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Mendeliome v0.4477 TNNI2 Zornitza Stark Mode of pathogenicity for gene: TNNI2 was changed from to Other
Mendeliome v0.4476 TNNI2 Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4475 MEIS2 Michelle Torres reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4475 TNNI2 Michelle Torres changed review comment from: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function.; to: Only a handful of variants reported, with a cluster of pathogenic missense in the C-terminal (between p.165 and 175). Missense, nonsense (not NMD) and an inframe-deletion have been shown to result in gain of function (PMIDs: 17194691, 25340332).
Mendeliome v0.4475 PDIA5 Ain Roesley reviewed gene: PDIA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.4475 TNNI2 Michelle Torres reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17194691, 25340332; Phenotypes: Arthrogryposis, distal, type 2B1 (MIM#601680); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4475 MMP23A Bryony Thompson Marked gene: MMP23A as ready
Mendeliome v0.4475 MMP23A Bryony Thompson Gene: mmp23a has been classified as Red List (Low Evidence).
Mendeliome v0.4475 MMP23A Bryony Thompson Classified gene: MMP23A as Red List (low evidence)
Mendeliome v0.4475 MMP23A Bryony Thompson Gene: mmp23a has been classified as Red List (Low Evidence).
Mendeliome v0.4474 MMP23A Bryony Thompson reviewed gene: MMP23A: Rating: RED; Mode of pathogenicity: None; Publications: 15483646, 18924166; Phenotypes: Craniosynostosis; Mode of inheritance: Unknown
Mendeliome v0.4474 TAF2 Zornitza Stark Publications for gene: TAF2 were set to 21937992; 22633631; 26350204
Mendeliome v0.4473 TAF2 Zornitza Stark edited their review of gene: TAF2: Added comment: Evidence for gene-disease association is limited. Families reported as part of large cohorts with limited phenotypic data, and variants are homozygous missense without functional validation. Borderline Amber/Green.; Changed publications: 21937992, 22633631, 26350204, 24084144
Mendeliome v0.4473 TAF2 Elena Savva reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24084144, 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.118 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Hereditary Spastic Paraplegia v0.118 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.118 ABCD1 Zornitza Stark Classified gene: ABCD1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.118 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.117 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM# 300100
Review for gene: ABCD1 was set to GREEN
Added comment: Variable age of onset. Spasticity is a feature. Well established gene-disease association.
Sources: Expert list
Clefting disorders v0.0 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YAP1 were set to 24462371
Phenotypes for gene: YAP1 were set to COB1; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Clefting disorders v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT3 were set to 14872406
Phenotypes for gene: WNT3 were set to TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS
Clefting disorders v0.0 WASHC5 Zornitza Stark gene: WASHC5 was added
gene: WASHC5 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WASHC5 were set to 24065355
Phenotypes for gene: WASHC5 were set to RTSC1; RITSCHER-SCHINZEL SYNDROME 1
Clefting disorders v0.0 VAX1 Zornitza Stark gene: VAX1 was added
gene: VAX1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: VAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAX1 were set to 22095910
Phenotypes for gene: VAX1 were set to MCOPS11; MICROPHTHALMIA, SYNDROMIC 11
Clefting disorders v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 24385928
Phenotypes for gene: UQCC2 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
Clefting disorders v0.0 UBB Zornitza Stark gene: UBB was added
gene: UBB was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: UBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBB were set to Cleft palate, isolated, 119540
Clefting disorders v0.0 TWIST2 Zornitza Stark gene: TWIST2 was added
gene: TWIST2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWIST2 were set to BARBER-SAY SYNDROME; BBRSAY
Clefting disorders v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TSR2 was set to Unknown
Phenotypes for gene: TSR2 were set to Cleft palate
Clefting disorders v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFB2 were set to 29392890
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, 614816
Clefting disorders v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TFAP2B was set to Unknown
Phenotypes for gene: TFAP2B were set to Cleft lip
Clefting disorders v0.0 SUMO1 Zornitza Stark gene: SUMO1 was added
gene: SUMO1 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUMO1 were set to 22492558
Phenotypes for gene: SUMO1 were set to Cleft Lip with or without Cleft Palate; Orofacial cleft 10, 613705
Clefting disorders v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STXBP1 were set to EIEE4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
Clefting disorders v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to MCOPS9; MICROPHTHALMIA, SYNDROMIC 9
Clefting disorders v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7
Clefting disorders v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
Clefting disorders v0.0 SMOC1 Zornitza Stark gene: SMOC1 was added
gene: SMOC1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to MLA; MICROPHTHALMIA WITH LIMB ANOMALIES
Clefting disorders v0.0 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 29392890
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome
Clefting disorders v0.0 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: SELENOI was set to Unknown
Phenotypes for gene: SELENOI were set to Cleft palate
Clefting disorders v0.0 RSPO2 Zornitza Stark gene: RSPO2 was added
gene: RSPO2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: RSPO2 was set to Unknown
Phenotypes for gene: RSPO2 were set to Cleft lip
Clefting disorders v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to DBA1; DIAMOND-BLACKFAN ANEMIA 1
Clefting disorders v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS17 were set to DIAMOND-BLACKFAN ANEMIA 4; DBA4
Clefting disorders v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: RPL11 was set to Unknown
Phenotypes for gene: RPL11 were set to Cleft palate
Clefting disorders v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to TAR; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Clefting disorders v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMS; SMITH-MAGENIS SYNDROME
Clefting disorders v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTDSS1 were set to 25363158; 15194948; 26117586; 24241535
Phenotypes for gene: PTDSS1 were set to broad prominent forehead; delayed closure of the fontanelles; dental enamel hypoplasia; growth restriction; Lenz-Majewski hyperostotic dwarfism, 151050; choanal atresia; proximal symphalangism cutis laxa; progressive sclerosis and hyperostosis of skull, vertebra and tubular bones; brachydactyly of fingers and toes
Mode of pathogenicity for gene: PTDSS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Clefting disorders v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 25152457
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038
Clefting disorders v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PQBP1 were set to 7943045
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500
Clefting disorders v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 15894594
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Clefting disorders v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 12369018
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Clefting disorders v0.0 PLEKHA5 Zornitza Stark gene: PLEKHA5 was added
gene: PLEKHA5 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHA5 were set to 29805042
Phenotypes for gene: PLEKHA5 were set to cleft lip
Clefting disorders v0.0 PLCB4 Zornitza Stark gene: PLCB4 was added
gene: PLCB4 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PLCB4 was set to Unknown
Phenotypes for gene: PLCB4 were set to Cleft palate
Clefting disorders v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PIK3R2 were set to MPPH1; MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Clefting disorders v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 28371479
Phenotypes for gene: PIGL were set to CHIME; COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
Clefting disorders v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 22305531; 22514539
Phenotypes for gene: PIGA were set to MCAHS2; MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Clefting disorders v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PGM1 was set to Unknown
Phenotypes for gene: PGM1 were set to Cleft palate
Clefting disorders v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: PGAP2 was set to Unknown
Phenotypes for gene: PGAP2 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3
Clefting disorders v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Clefting disorders v0.0 NKX2-6 Zornitza Stark gene: NKX2-6 was added
gene: NKX2-6 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-6 was set to Unknown
Phenotypes for gene: NKX2-6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-5 was set to Unknown
Publications for gene: NKX2-5 were set to 22155005
Phenotypes for gene: NKX2-5 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to 3857858; 22373003
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260; NBS
Clefting disorders v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 24501276
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942; MRT44
Clefting disorders v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED12 were set to 12784307
Phenotypes for gene: MED12 were set to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate
Clefting disorders v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMX1B were set to 2012138
Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200
Clefting disorders v0.0 KIF22 Zornitza Stark gene: KIF22 was added
gene: KIF22 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF22 were set to 22653704
Phenotypes for gene: KIF22 were set to SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546
Clefting disorders v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT6B were set to 20182757; 27031267
Phenotypes for gene: KAT6B were set to Genitopatellar syndrome, 606170; GTPTS
Clefting disorders v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KANSL1 were set to 20301783; 22544363
Phenotypes for gene: KANSL1 were set to KDVS; Koolen-De Vries syndrome, 610443
Clefting disorders v0.0 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: INTS1 was set to Unknown
Phenotypes for gene: INTS1 were set to Cleft palate
Clefting disorders v0.0 HOXA2 Zornitza Stark gene: HOXA2 was added
gene: HOXA2 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 18394579; 23775976; 27503514
Phenotypes for gene: HOXA2 were set to Ear anomalies and orofacial clefting; Microtia, Hearing Impairment, and Cleft Palate; Cleft palate; ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal)
Clefting disorders v0.0 GYPE Zornitza Stark gene: GYPE was added
gene: GYPE was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: GYPE was set to Unknown
Clefting disorders v0.0 GRIP1 Zornitza Stark gene: GRIP1 was added
gene: GRIP1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIP1 were set to 22510445; 16894541; 18000968
Phenotypes for gene: GRIP1 were set to Fraser syndrome, 219000
Clefting disorders v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: GNAI3 was set to Unknown
Phenotypes for gene: GNAI3 were set to Cleft palate
Clefting disorders v0.0 GMNN Zornitza Stark gene: GMNN was added
gene: GMNN was added to Clefting_GEL. Sources: Expert list,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, 616835
Clefting disorders v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: GDF1 was set to Unknown
Publications for gene: GDF1 were set to 16564040
Phenotypes for gene: GDF1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: GATA6 was set to Unknown
Publications for gene: GATA6 were set to 27391658
Phenotypes for gene: GATA6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS
Clefting disorders v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM2 were set to 15838507; 16894541; 18671281; 18203166
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000
Clefting disorders v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXE1 was set to Unknown
Phenotypes for gene: FOXE1 were set to Cleft palate
Clefting disorders v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 25754594
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083
Clefting disorders v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Clefting_GEL. Sources: Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM111A were set to 23684011; 16086393
Phenotypes for gene: FAM111A were set to 602361; Gracile bone dysplasia
Clefting disorders v0.0 EDN1 Zornitza Stark gene: EDN1 was added
gene: EDN1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: EDN1 was set to Unknown
Phenotypes for gene: EDN1 were set to Cleft palate
Clefting disorders v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 17893117; 23486536
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000
Clefting disorders v0.0 DLG1 Zornitza Stark gene: DLG1 was added
gene: DLG1 was added to Clefting_GEL. Sources: Literature,Expert Review Red
Mode of inheritance for gene: DLG1 was set to Unknown
Publications for gene: DLG1 were set to PMID: 28926086
Phenotypes for gene: DLG1 were set to Non-syndromic cleft lip with or without cleft palate
Clefting disorders v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIS3L2 were set to 23486540; 22306653; 28328139
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000
Clefting disorders v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A3 was set to Unknown
Phenotypes for gene: COL9A3 were set to Cleft palate
Clefting disorders v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Clefting_GEL. Sources: Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CKAP2L were set to 12416644; 15365457
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440
Clefting disorders v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 15365460
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282; TPBS
Clefting disorders v0.0 CHD1 Zornitza Stark gene: CHD1 was added
gene: CHD1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD1 was set to Unknown
Phenotypes for gene: CHD1 were set to Cleft palate
Clefting disorders v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: CASK was set to Unknown
Phenotypes for gene: CASK were set to MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
Clefting disorders v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: CANT1 was set to Unknown
Publications for gene: CANT1 were set to 27881841
Phenotypes for gene: CANT1 were set to DBQD1; DESBUQUOIS DYSPLASIA 1
Clefting disorders v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625
Clefting disorders v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: B3GAT3 was set to Unknown
Phenotypes for gene: B3GAT3 were set to JDSCD; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Clefting disorders v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: ATRX was set to Unknown
Publications for gene: ATRX were set to 9788563
Phenotypes for gene: ATRX were set to MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
Clefting disorders v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164
Clefting disorders v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS
Clefting disorders v0.0 ACBD5 Zornitza Stark gene: ACBD5 was added
gene: ACBD5 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ACBD5 was set to Unknown
Phenotypes for gene: ACBD5 were set to Cleft palate
Clefting disorders v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to RESTRICTIVE DERMOPATHY, LETHAL
Clefting disorders v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 23486536
Phenotypes for gene: ZBTB24 were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2
Clefting disorders v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to SRTD8; SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7
Clefting disorders v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to SRTD11; SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to SRTD5; SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4
Clefting disorders v0.0 TBX15 Zornitza Stark gene: TBX15 was added
gene: TBX15 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to COUSIN SYNDROME
Clefting disorders v0.0 TBX1 Zornitza Stark gene: TBX1 was added
gene: TBX1 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX1 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate
Clefting disorders v0.0 SMG9 Zornitza Stark gene: SMG9 was added
gene: SMG9 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG9 were set to 27018474
Phenotypes for gene: SMG9 were set to HBMS; HEART AND BRAIN MALFORMATION SYNDROME
Clefting disorders v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to CLSD; CRANIOLENTICULOSUTURAL DYSPLASIA
Clefting disorders v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to 23553484
Phenotypes for gene: RYR1 were set to CCD; CENTRAL CORE DISEASE OF MUSCLE
Clefting disorders v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS28 were set to DBA15; DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; Cleft palate
Clefting disorders v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBPJ were set to 28160419; 22883147
Phenotypes for gene: RBPJ were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA, SYNDROMIC 12; MCOPS12
Clefting disorders v0.0 POLR1A Zornitza Stark gene: POLR1A was added
gene: POLR1A was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to cleft palte
Clefting disorders v0.0 PLEKHA7 Zornitza Stark gene: PLEKHA7 was added
gene: PLEKHA7 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHA7 were set to 29805042
Phenotypes for gene: PLEKHA7 were set to cleft lip
Clefting disorders v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 25152457; 24836451
Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 1; NLS1
Clefting disorders v0.0 MEOX1 Zornitza Stark gene: MEOX1 was added
gene: MEOX1 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEOX1 were set to 23290072; 24073994
Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2
Clefting disorders v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 25792360
Phenotypes for gene: MED25 were set to BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS
Clefting disorders v0.0 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Clefting_GEL. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13L were set to 25712080; 25137640
Phenotypes for gene: MED13L were set to Mental retardation and distinctive facial features with or without cardiac defects, 616789; Cleft palate; MRFACD
Clefting disorders v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to RESTRICTIVE DERMOPATHY, LETHAL
Clefting disorders v0.0 KDM1A Zornitza Stark gene: KDM1A was added
gene: KDM1A was added to Clefting_GEL. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM1A were set to 23020937; 24838796; 26656649
Phenotypes for gene: KDM1A were set to Cleft palate,psychomotor retardation,distinctive facial features, 616728
Clefting disorders v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16
Clefting disorders v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB1 were set to 27108799
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42, 616973
Clefting disorders v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to 10935639; 11389161; 28303854; 21834031; 19659764
Phenotypes for gene: GATA3 were set to HDR syndrome; Barakat syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Clefting disorders v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to 26378117; 19559399
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism, 612938; Lethal polymalformative syndrome, Boissel type
Clefting disorders v0.0 FOXP2 Zornitza Stark gene: FOXP2 was added
gene: FOXP2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to 27734906; 15326624
Phenotypes for gene: FOXP2 were set to Speech-language disorder-1, 602081
Clefting disorders v0.0 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 17035249; 30057029; 30679813
Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089; cleft lip
Clefting disorders v0.0 ESRP2 Zornitza Stark gene: ESRP2 was added
gene: ESRP2 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to cleft lip
Clefting disorders v0.0 DLX4 Zornitza Stark gene: DLX4 was added
gene: DLX4 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLX4 were set to 25954033
Phenotypes for gene: DLX4 were set to nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788
Clefting disorders v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME V; OFD5
Clefting disorders v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DDX3X were set to MRX102; MENTAL RETARDATION, X-LINKED 102
Clefting disorders v0.0 COL9A2 Zornitza Stark gene: COL9A2 was added
gene: COL9A2 was added to Clefting_GEL. Sources: Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A2 were set to 21671392
Phenotypes for gene: COL9A2 were set to Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate
Clefting disorders v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 27374770
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063; MGORS7
Clefting disorders v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to MVA1; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Clefting disorders v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 24755949
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA
Clefting disorders v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: B3GALT6 was set to Unknown
Phenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; Ehlers-Danlos syndrome, progeroid type, 2 615349; SEMDJL1
Clefting disorders v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ATR was set to Unknown
Phenotypes for gene: ATR were set to SECKEL SYNDROME 1; SCKL1
Clefting disorders v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Clefting_GEL. Sources: Expert Review Amber
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 19409524; 22106187; 19401770
Phenotypes for gene: ALX3 were set to FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1
Clefting disorders v0.0 ALX1 Zornitza Stark gene: ALX1 was added
gene: ALX1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 26610632; 20451171; 27324866
Phenotypes for gene: ALX1 were set to ?Frontonasal dysplasia 3, 613456
Clefting disorders v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to AFND; ACROMELIC FRONTONASAL DYSOSTOSIS
Clefting disorders v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
Clefting disorders v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZIC2 were set to 19955556
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 5; HPE5
Clefting disorders v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME; MOWS
Clefting disorders v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2; DBQD2
Clefting disorders v0.0 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WNT5A were set to DRS1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
Clefting disorders v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Clefting_GEL. Sources: Expert Review Green,Literature
Mode of inheritance for gene: USP9X 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: USP9X were set to 26833328
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968
Clefting disorders v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNL4A were set to 25434003
Phenotypes for gene: TXNL4A were set to BURN-MCKEOWN SYNDROME; BMKS; Cleft palate
Clefting disorders v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to CSCSC1; SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
Clefting disorders v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM
Clefting disorders v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC9 were set to 20004764
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
Clefting disorders v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC3; Limb-mammary syndrome, 603543; AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; Cleft lip; Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292
Clefting disorders v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR; Cleft palate
Clefting disorders v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Clefting_GEL. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBR2 were set to 12975342; 15731757; 16928994
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys-Dietz syndrome 2, 610168
Clefting disorders v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME 1; LDS1
Clefting disorders v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were set to LDS5; LOEYS-DIETZ SYNDROME 5
Clefting disorders v0.0 TGDS Zornitza Stark gene: TGDS was added
gene: TGDS was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGDS were set to 25480037
Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME; Cleft palate; CATMANS
Clefting disorders v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TFAP2A were set to 10767004
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME; BOFS; Cleft lip
Clefting disorders v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to YHFS; YOU-HOOVER-FONG SYNDROME
Clefting disorders v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to OFD4; OROFACIODIGITAL SYNDROME IV
Clefting disorders v0.0 TCOF1 Zornitza Stark gene: TCOF1 was added
gene: TCOF1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME 1; TCS1
Clefting disorders v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX22 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: TBX22 were set to 19648124; 17846996; 21248356; 12374769; 11559848; 19648291; 22784330; 14729838
Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, 303400; Cleft palate; CPX; cleft lip; palate; CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; sub mucous cleft
Clefting disorders v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICCAP; MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
Clefting disorders v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Clefting_GEL. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPECC1L were set to 8849002; 21703590; 25412741; 1897571
Phenotypes for gene: SPECC1L were set to GBBB2; ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410; OPITZ GBBB SYNDROME, TYPE II
Clefting disorders v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX9 were set to 7485151; 7990924; 24038782; 12783851; 19449405; 15806394; 8894698
Phenotypes for gene: SOX9 were set to CAMPOMELIC DYSPLASIA,114290; Campomelic dysplasia with autosomal sex reversal, 114290; CAMPOMELIC DYSPLASIA; Cleft palate; Cleft palate with skeletal abnormalities; Orofacial Clefting with Skeletal Features; Acampomelic campomelic dysplasia, 114290
Clefting disorders v0.0 SON Zornitza Stark gene: SON was added
gene: SON was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SON were set to 27545680
Phenotypes for gene: SON were set to ZTTK SYNDROME; ZTTKS
Clefting disorders v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNRPB were set to 25047197
Phenotypes for gene: SNRPB were set to CEREBROCOSTOMANDIBULAR SYNDROME; CCMS; Cleft palate
Clefting disorders v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
Clefting disorders v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME 3; CDLS3
Clefting disorders v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to CDLS2; CORNELIA DE LANGE SYNDROME 2
Clefting disorders v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME; MYHRS
Clefting disorders v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME 3; LDS3
Clefting disorders v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A2 were set to 12866518; 25667404; 8931695; 8571951; 10465113; 18708426; 15316973; 11565064; 7923357
Phenotypes for gene: SLC26A2 were set to De la Chapelle dysplasia (includes clefting), 256050; DIASTROPHIC DYSPLASIA; Diastrophic dysplasia (includes clefting), 222600; Atelosteogenesis II (includes clefting), 256050; DTD; Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600; McAlister Dysplasia; Orofacial Clefting with skeletal features
Clefting disorders v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS
Clefting disorders v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to BOR2; BRANCHIOOTORENAL SYNDROME 2
Clefting disorders v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY 2; HPE2
Clefting disorders v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to BOS3; BRANCHIOOTIC SYNDROME 3
Clefting disorders v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to HOLOPROSENCEPHALY 3; HPE3
Clefting disorders v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SF3B4 were set to 22541558
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
Clefting disorders v0.0 SEPT9 Zornitza Stark gene: SEPT9 was added
gene: SEPT9 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SEPT9 were set to HNA; AMYOTROPHY, HEREDITARY NEURALGIC
Clefting disorders v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VDEGS; VAN DEN ENDE-GUPTA SYNDROME
Clefting disorders v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB2 were set to 16179223
Phenotypes for gene: SATB2 were set to Glass syndrome; GLASS SYNDROME; Cleft palate; GLASS; Cleft palate, intellectual disability, poor- absent speech, bone fragility- raised serum alkaline phosphatas; Chromosome 2q32-q33 deletion syndrome; Orofacial Clefting with skeletal features
Clefting disorders v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to DUANE-RADIAL RAY SYNDROME; DRRS
Clefting disorders v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS26 were set to 20116044
Phenotypes for gene: RPS26 were set to DBA10; DIAMOND-BLACKFAN ANEMIA 10; Cleft palate
Clefting disorders v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL5 were set to 19061985
Phenotypes for gene: RPL5 were set to DIAMOND-BLACKFAN ANEMIA 6; Cleft palate; DBA6
Clefting disorders v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS
Clefting disorders v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBM10 were set to 20451169
Phenotypes for gene: RBM10 were set to TARPS; Cleft palate; TARP SYNDROME
Clefting disorders v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to HPE7; BCNS, HOLOPROSENCEPHALY 7; BASAL CELL NEVUS SYNDROME
Clefting disorders v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: PORCN 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: PORCN were set to 12071796; 21484999; 20301712; 10602117; 13948891; 18325042
Phenotypes for gene: PORCN were set to GOLTZ SYNDROME; Focal dermal hypoplasia, 305600
Clefting disorders v0.0 POLR1D Zornitza Stark gene: POLR1D was added
gene: POLR1D was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1D were set to TCS2; TREACHER COLLINS SYNDROME 2
Clefting disorders v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME 3; TCS3
Clefting disorders v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 24129430; 21739589
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1
Clefting disorders v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to 27038415; 24852103
Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
Clefting disorders v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIEZO2 were set to 24726473
Phenotypes for gene: PIEZO2 were set to MWKS; DA3, MARDEN-WALKER SYNDROME; ARTHROGRYPOSIS, DISTAL, TYPE 3
Clefting disorders v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip
Clefting disorders v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX3 were set to WAARDENBURG
Clefting disorders v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to OROFACIODIGITAL SYNDROME I; OFD1
Clefting disorders v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPBL were set to CDLS1; CORNELIA DE LANGE SYNDROME 1
Clefting disorders v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6
Clefting disorders v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature,Expert Review
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEDD4L were set to 27694961
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7 (includes clefting), 617201; Cleft palate; Cleft palate, toe syndactyly, periventricular nodular heterotopia
Clefting disorders v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Clefting_GEL. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN1 were set to 10932188; 26953873; 11559849
Phenotypes for gene: NECTIN1 were set to Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome
Clefting disorders v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Clefting_GEL. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940
Clefting disorders v0.0 MSX1 Zornitza Stark gene: MSX1 was added
gene: MSX1 was added to Clefting_GEL. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSX1 were set to 16498076; 10742093; 27228008; 15264286; 12097313; 12807959; 25565750
Phenotypes for gene: MSX1 were set to Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Orofacial cleft 5, 608874; Cleft lip; CLP with dental anomalies
Clefting disorders v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKS1 were set to 24643152; 26037304; 25182137
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000; Meckel-Gruber Syndrome (MGS); MKS1
Clefting disorders v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: MID1 were set to OPITZ GBBB SYNDROME, TYPE I; GBBB1
Clefting disorders v0.0 MEIS2 Zornitza Stark gene: MEIS2 was added
gene: MEIS2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Expert Review
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEIS2 were set to 25712757; 27225850; 24678003
Phenotypes for gene: MEIS2 were set to intellectual disability; cardiac defects; Orofacial clefting; Cleft palate
Clefting disorders v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
Clefting disorders v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC1; 3MC SYNDROME 1
Clefting disorders v0.0 MAPRE2 Zornitza Stark gene: MAPRE2 was added
gene: MAPRE2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPRE2 were set to SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2
Clefting disorders v0.0 MAP3K7 Zornitza Stark gene: MAP3K7 was added
gene: MAP3K7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 28498505; 25899317
Phenotypes for gene: MAP3K7 were set to AD-FMD; Frontometaphyseal dysplasia 2, 617137; autosomal dominant FMD; FMD2
Clefting disorders v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Clefting_GEL. Sources: Expert Review,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 22126750; 20711175; 21671394; 26049589; 25142838
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, 147920
Clefting disorders v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 21552264
Phenotypes for gene: KIF7 were set to ACLS; ACROCALLOSAL SYNDROME
Clefting disorders v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1BP were set to 16760737; 7338549
Phenotypes for gene: KIF1BP were set to GOSHS; Goldberg-Shprintzen megacolon syndrome, 609460
Clefting disorders v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to SRTD14; SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Clefting disorders v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Clefting_GEL. Sources: Expert Review,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: KDM6A 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: KDM6A were set to 24664873; 22197486; 23076834
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, 300867
Clefting disorders v0.0 KCNJ2 Zornitza Stark gene: KCNJ2 was added
gene: KCNJ2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ2 were set to 12163457
Phenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Cleft palate
Clefting disorders v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32
Clefting disorders v0.0 IRF6 Zornitza Stark gene: IRF6 was added
gene: IRF6 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IRF6 were set to lip pits; Cleft palate; Orofacial cleft 6, 608864; VWS1, POPLITEAL PTERYGIUM SYNDROME; Cleft Lip with or without Cleft Palate; VAN DER WOUDE SYNDROME 1; PPS; Cleft lip +/- palate- unilateral or bilateral; Orofacial Clefting with skeletal features; cleft palate
Clefting disorders v0.0 IMPAD1 Zornitza Stark gene: IMPAD1 was added
gene: IMPAD1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPAD1 were set to 22887726; 21549340
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate)
Clefting disorders v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2
Clefting disorders v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to SRTD10; SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
Clefting disorders v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9
Clefting disorders v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 24853502
Phenotypes for gene: ICK were set to ECO; Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)
Clefting disorders v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYLS1 were set to 3296755; 22029171; 8322817; 15843405
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)
Clefting disorders v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to CDLS5; CORNELIA DE LANGE SYNDROME 5
Clefting disorders v0.0 GRHL3 Zornitza Stark gene: GRHL3 was added
gene: GRHL3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRHL3 were set to Cleft lip; VAN DER WOUDE SYNDROME 2
Clefting disorders v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
Clefting disorders v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLI3 were set to 15739154; 24736735; 7211952; 20301638; 1605268
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome, 146510
Clefting disorders v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA1 were set to 1057461; 12457340; 19338053; 15108203
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia,164200; ODDD
Clefting disorders v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRAS1 were set to 17163535; 16894541; 18203166; 18671281
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000
Clefting disorders v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to Cleft palate; LYMPHEDEMA-DISTICHIASIS SYNDROME
Clefting disorders v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460; Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720; Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721; Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250; Orofacial Clefting with skeletal features; Skeletal dysplasia with midline cleft palate
Clefting disorders v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Clefting_GEL. Sources: Expert Review Green,UKGTN
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to 10706363; 20301567; 12612583; 16538226
Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME, TYPE I; Otopalatodigital syndrome, type II, 304120 (includes clefting); Orofacial Clefting with skeletal anomalies; OPD1, OTOPALATODIGITAL SYNDROME, TYPE II; OPD2, FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1; Melnick-Needles syndrome, 309350 (includes clefting); Otopalatodigital syndrome, type I, 311300 (includes clefting)
Clefting disorders v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR2 were set to APERT SYNDROME
Clefting disorders v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 19504604; 25394172; 1342859; 16606836; 14564207; 12627230
Phenotypes for gene: FGFR1 were set to Kallmann syndrome 2; Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
Clefting disorders v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGD1 were set to 20082460
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME; AAS
Clefting disorders v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 2194867118000911; 2614802; 25974638; 17924334; 10482879
Phenotypes for gene: FAM20C were set to Raine syndrome, 259775
Clefting disorders v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to BOR1; BRANCHIOOTORENAL SYNDROME 1
Clefting disorders v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to ROBERTS SYNDROME; RBS, SC PHOCOMELIA SYNDROME
Clefting disorders v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Clefting_GEL. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 26927810; 20583151; 3344762; 17163544
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840
Clefting disorders v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 EIF4A3 Zornitza Stark gene: EIF4A3 was added
gene: EIF4A3 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF4A3 were set to 10594883; 29112243; 29922329
Phenotypes for gene: EIF4A3 were set to Richieri-Costa-Pereira syndrome; Robin sequence with cleft mandible and limb anomalies, 268305; Cleft palate
Clefting disorders v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MRXSBRK; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE
Clefting disorders v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA
Clefting disorders v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME; CFNS
Clefting disorders v0.0 EDNRA Zornitza Stark gene: EDNRA was added
gene: EDNRA was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA; Cleft palate
Clefting disorders v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EBP were set to MEND SYNDROME; MEND
Clefting disorders v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15
Clefting disorders v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
Clefting disorders v0.0 DVL3 Zornitza Stark gene: DVL3 was added
gene: DVL3 was added to Clefting_GEL. Sources: Expert Review Green,Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530; 29575616
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Clefting disorders v0.0 DVL1 Zornitza Stark gene: DVL1 was added
gene: DVL1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL1 were set to DRS2; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Clefting disorders v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 DLL4 Zornitza Stark gene: DLL4 was added
gene: DLL4 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME
Clefting disorders v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS
Clefting disorders v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME; SLOS
Clefting disorders v0.0 CTNND1 Zornitza Stark gene: CTNND1 was added
gene: CTNND1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 28301459
Phenotypes for gene: CTNND1 were set to BLEPHAROCHEILODONTIC; Cleft palate
Clefting disorders v0.0 CTCF Zornitza Stark gene: CTCF was added
gene: CTCF was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTCF were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
Clefting disorders v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC2; 3MC SYNDROME 2
Clefting disorders v0.0 COLEC10 Zornitza Stark gene: COLEC10 was added
gene: COLEC10 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC10 were set to 21258343
Phenotypes for gene: COLEC10 were set to 3MC SYNDROME 3; 3MC3
Clefting disorders v0.0 COL9A1 Zornitza Stark gene: COL9A1 was added
gene: COL9A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A1 were set to 16909383; 21421862
Phenotypes for gene: COL9A1 were set to Autosomal recessive Stickler syndrome; Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms; Orofacial Clefting with skeletal features; Cleft palate
Clefting disorders v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL2A1 were set to 16752401; 17721977; 1677770
Phenotypes for gene: COL2A1 were set to STL1; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss); Stickler sydrome, type I, non syndromic ocular; Cleft palate; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM; STICKLER SYNDROME, TYPE I; Orofacial Clefting with skeletal features; Stickler Syndrome; STICKLER SYNDROME, TYPE I (STL1), 108300; STICKLER SYNDROME, VITREOUS TYPE 1
Clefting disorders v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Clefting_GEL. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Cleft palate; OSMED; STL3; Stickler syndrome, type III; Non-ocular Stickler syndrome; STICKLER SYNDROME, NONOCULAR TYPE
Clefting disorders v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate
Clefting disorders v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1
Clefting disorders v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 16826520; 22167768; 27843868
Phenotypes for gene: CHRNG were set to PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000
Clefting disorders v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE SYNDROME
Clefting disorders v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 20503313
Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME; BWS
Clefting disorders v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Clefting_GEL. Sources: Expert Review Green,Other
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH1 were set to 27566442; 28301459
Phenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC
Clefting disorders v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Clefting_GEL. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 18513680; 19777577
Phenotypes for gene: CC2D2A were set to MKS6; Meckel-Gruber syndrome; Meckel syndrome 6, 612284
Clefting disorders v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to OFD6; OROFACIODIGITAL SYNDROME VI
Clefting disorders v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to OFD14; OROFACIODIGITAL SYNDROME XIV
Clefting disorders v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 29198724; 21671386
Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Cleft palate
Clefting disorders v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BCOR were set to MCOPS2; MICROPHTHALMIA, SYNDROMIC 2
Clefting disorders v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME
Clefting disorders v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL1 were set to BOPS; BOHRING-OPITZ SYNDROME
Clefting disorders v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP31 were set to AOS1; ADAMS-OLIVER SYNDROME 1
Clefting disorders v0.0 ARHGAP29 Zornitza Stark gene: ARHGAP29 was added
gene: ARHGAP29 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Research
Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGAP29 were set to 23008150; 27369588; 25704602; 27350171; 25512736; 27033726; 28029220
Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate
Clefting disorders v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361
Phenotypes for gene: ANKRD11 were set to Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)
Clefting disorders v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Cleft palate
Clefting disorders v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTG1 were set to 22366783
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME 2; BRWS2
Clefting disorders v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Clefting_GEL. Sources: Expert Review Green
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTB were set to 22366783
Phenotypes for gene: ACTB were set to BRWS1; BARAITSER-WINTER SYNDROME 1
Clefting disorders v0.0 Zornitza Stark Added panel Clefting_GEL
Intellectual disability syndromic and non-syndromic v0.3007 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Genetic Epilepsy v0.860 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Mendeliome v0.4473 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Mendeliome v0.4473 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Mendeliome v0.4473 VPS11 Zornitza Stark Phenotypes for gene: VPS11 were changed from to Leukodystrophy, hypomyelinating, 12, MIM# 616683
Mendeliome v0.4472 VPS11 Zornitza Stark Publications for gene: VPS11 were set to
Mendeliome v0.4471 VPS11 Zornitza Stark Mode of inheritance for gene: VPS11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4470 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Mendeliome v0.4470 VPS11 Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.201 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Leukodystrophy v0.201 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Leukodystrophy v0.201 VPS11 Zornitza Stark Tag founder tag was added to gene: VPS11.
Leukodystrophy v0.201 VPS11 Zornitza Stark Publications for gene: VPS11 were set to
Leukodystrophy v0.200 VPS11 Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.200 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Leukodystrophy v0.200 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Leukodystrophy v0.200 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Leukodystrophy v0.199 WARS2 Zornitza Stark reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31282308, 28650581, 30920170; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.199 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Leukodystrophy v0.198 ZFYVE26 Zornitza Stark edited their review of gene: ZFYVE26: Changed publications: 19084844
Leukodystrophy v0.198 TWNK Zornitza Stark Marked gene: TWNK as ready
Leukodystrophy v0.198 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.198 TWNK Zornitza Stark Classified gene: TWNK as Amber List (moderate evidence)
Leukodystrophy v0.198 TWNK Zornitza Stark Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.197 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 31455269; 19353676
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245
Review for gene: TWNK was set to AMBER
Added comment: Two reports of white matter changes: one in a woman diagnosed with PEO and mono-allelic variant and an infant diagnosed with mitochondrial depletion syndrome and bi-allelic variants.
Sources: Expert list
Leukodystrophy v0.196 TUFM Zornitza Stark Marked gene: TUFM as ready
Leukodystrophy v0.196 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Leukodystrophy v0.196 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from Mitochondrial Leukoencephalopathy to Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mitochondrial Leukoencephalopathy
Leukodystrophy v0.195 TUFM Zornitza Stark Publications for gene: TUFM were set to
Leukodystrophy v0.194 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.194 TMEM106B Zornitza Stark Deleted their comment
Leukodystrophy v0.194 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22972948; Phenotypes: Mitochondrial respiratory chain complex II deficiency, MIM#252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.194 PC Zornitza Stark Marked gene: PC as ready
Leukodystrophy v0.194 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Leukodystrophy v0.194 PC Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.194 PAFAH1B1 Zornitza Stark Marked gene: PAFAH1B1 as ready
Leukodystrophy v0.194 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Leukodystrophy v0.194 PAFAH1B1 Zornitza Stark Classified gene: PAFAH1B1 as Green List (high evidence)
Leukodystrophy v0.194 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Leukodystrophy v0.193 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAFAH1B1 were set to 31370080; 30568308; 20301752
Phenotypes for gene: PAFAH1B1 were set to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830
Review for gene: PAFAH1B1 was set to GREEN
Added comment: White matter abnormalities are part of the phenotype.
Sources: Expert list
Mendeliome v0.4470 GGT1 Zornitza Stark Marked gene: GGT1 as ready
Mendeliome v0.4470 GGT1 Zornitza Stark Gene: ggt1 has been classified as Red List (Low Evidence).
Mendeliome v0.4470 GGT1 Zornitza Stark Phenotypes for gene: GGT1 were changed from to ?Glutathioninuria 231950
Mendeliome v0.4469 GGT1 Zornitza Stark Publications for gene: GGT1 were set to
Mendeliome v0.4468 GGT1 Zornitza Stark Mode of inheritance for gene: GGT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4467 GGT1 Zornitza Stark Classified gene: GGT1 as Red List (low evidence)
Mendeliome v0.4467 GGT1 Zornitza Stark Gene: ggt1 has been classified as Red List (Low Evidence).
Mendeliome v0.4466 GGT1 Elena Savva edited their review of gene: GGT1: Added comment: PMID: 29483667 - 1 family (2 sibs) w/ a homozygous 16.9kb deletion spanning part of the gene and no others. Carrier parents were normal.

PMID: 23615310 - homozygous mutant mouse model have dwarfism, cataracts and coat colour abnormalities. Protein activity reduced to 4% of wildtype. Noted it was for use as a GGT deficiency model.

PMID: 31520399 - 2 families with AD inheritance showing GGT1 deficiency but NO clinical symptoms. Authors call GGTemia a benign condition.; Changed publications: PMID: 29483667, 23615310, 31520399
Leukodystrophy v0.192 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Leukodystrophy v0.192 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Leukodystrophy v0.192 NFU1 Zornitza Stark Publications for gene: NFU1 were set to 29441221
Leukodystrophy v0.191 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4466 NAXE Zornitza Stark Marked gene: NAXE as ready
Mendeliome v0.4466 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Mendeliome v0.4466 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Mendeliome v0.4465 NAXE Zornitza Stark Publications for gene: NAXE were set to
Mendeliome v0.4464 NAXE Zornitza Stark Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4463 NAXE Zornitza Stark changed review comment from: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.; to: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Mendeliome v0.4463 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.496 NAXE Zornitza Stark Marked gene: NAXE as ready
Mitochondrial disease v0.496 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Mitochondrial disease v0.496 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Mitochondrial disease v0.495 NAXE Zornitza Stark Publications for gene: NAXE were set to
Mitochondrial disease v0.494 NAXE Zornitza Stark Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.493 NAXE Zornitza Stark commented on gene: NAXE: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Mitochondrial disease v0.493 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.191 NAXE Zornitza Stark Marked gene: NAXE as ready
Leukodystrophy v0.191 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Leukodystrophy v0.191 NAXE Zornitza Stark Publications for gene: NAXE were set to
Leukodystrophy v0.190 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4463 NAXD Zornitza Stark Marked gene: NAXD as ready
Mendeliome v0.4463 NAXD Zornitza Stark Gene: naxd has been classified as Green List (High Evidence).
Mendeliome v0.4463 NAXD Zornitza Stark Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Mendeliome v0.4462 NAXD Zornitza Stark Publications for gene: NAXD were set to
Mendeliome v0.4461 NAXD Zornitza Stark Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.190 NAXD Zornitza Stark Publications for gene: NAXD were set to 32462209
Leukodystrophy v0.189 NAXD Zornitza Stark edited their review of gene: NAXD: Changed publications: 30576410, 31755961, 32462209
Leukodystrophy v0.189 NAXD Zornitza Stark changed review comment from: Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema.
Sources: Expert list; to: Seven unrelated cases, episodes of fever/infection prior to deterioration reported. Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.Sources: Expert list
Mendeliome v0.4460 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410, 31755961, 32462209; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.189 NAXD Zornitza Stark edited their review of gene: NAXD: Changed publications: 32462209, 30576410
Leukodystrophy v0.189 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Leukodystrophy v0.189 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Leukodystrophy v0.189 MEF2C Zornitza Stark Classified gene: MEF2C as Green List (high evidence)
Leukodystrophy v0.189 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Leukodystrophy v0.188 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEF2C were set to 27255693; 20333642
Phenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Review for gene: MEF2C was set to GREEN
Added comment: Delayed myelination and periventricular white matter hyperintensities reported in this syndrome.
Sources: Expert list
Leukodystrophy v0.187 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Leukodystrophy v0.187 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Leukodystrophy v0.187 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Leukodystrophy v0.186 KIF5A Zornitza Stark reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27463701, 27414745; Phenotypes: Myoclonus, intractable, neonatal, MIM# 617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.163 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Regression v0.163 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Regression v0.163 ISCA2 Zornitza Stark Classified gene: ISCA2 as Green List (high evidence)
Regression v0.163 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Regression v0.162 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Review for gene: ISCA2 was set to GREEN
Added comment: Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord.
Sources: Expert Review
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Mitochondrial disease v0.492 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Mitochondrial disease v0.491 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.490 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4460 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Mendeliome v0.4460 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Mendeliome v0.4460 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Mendeliome v0.4459 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Mendeliome v0.4458 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4457 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.186 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Leukodystrophy v0.186 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Leukodystrophy v0.186 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Leukodystrophy v0.185 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.23 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert Review
Leukodystrophy v0.185 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Leukodystrophy v0.185 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Leukodystrophy v0.185 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Leukodystrophy v0.184 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.183 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.183 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Leukodystrophy v0.183 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Leukodystrophy v0.183 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Leukodystrophy v0.182 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11461194; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.182 FA2H Zornitza Stark Marked gene: FA2H as ready
Leukodystrophy v0.182 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Leukodystrophy v0.182 FA2H Zornitza Stark Publications for gene: FA2H were set to
Leukodystrophy v0.181 FA2H Zornitza Stark reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31837835, 30446360, 22965561, 21592092; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.181 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Leukodystrophy v0.181 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Leukodystrophy v0.181 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, MIM#618186 to Hypomyelinating neuropathy, congenital, 3, MIM# 618186; Lethal congenital contracture syndrome 7, MIM# 616286
Leukodystrophy v0.180 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Leukodystrophy v0.179 CNTNAP1 Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29882456; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM# 618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.179 CLPP Zornitza Stark Marked gene: CLPP as ready
Leukodystrophy v0.179 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Leukodystrophy v0.179 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27899912; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.179 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Leukodystrophy v0.179 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Leukodystrophy v0.179 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Leukodystrophy v0.178 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4457 PRIMPOL Zornitza Stark Marked gene: PRIMPOL as ready
Mendeliome v0.4457 PRIMPOL Zornitza Stark Gene: primpol has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4457 PRIMPOL Zornitza Stark Phenotypes for gene: PRIMPOL were changed from to Myopia 22, autosomal dominant, MIM# 615420
Mendeliome v0.4456 PRIMPOL Zornitza Stark Publications for gene: PRIMPOL were set to
Mendeliome v0.4455 PRIMPOL Zornitza Stark Mode of inheritance for gene: PRIMPOL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4454 PRIMPOL Zornitza Stark Classified gene: PRIMPOL as Amber List (moderate evidence)
Mendeliome v0.4454 PRIMPOL Zornitza Stark Gene: primpol has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4453 PRIMPOL Zornitza Stark reviewed gene: PRIMPOL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopia 22, autosomal dominant, MIM# 615420; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4453 PRIMPOL Teresa Zhao reviewed gene: PRIMPOL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579484, 25262353, 27230014, 32375772; Phenotypes: Myopia 22 (MIM#615420) AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.178 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Leukodystrophy v0.178 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Leukodystrophy v0.178 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from hypomyelinating leukodystrophy and spondylometaphyseal dysplasia to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232
Leukodystrophy v0.177 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to 28842795
Leukodystrophy v0.176 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28842795, 27102849; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Leukodystrophy v0.176 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Leukodystrophy v0.176 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Leukodystrophy v0.176 ABCD1 Zornitza Stark Classified gene: ABCD1 as Green List (high evidence)
Leukodystrophy v0.176 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Leukodystrophy v0.175 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM# 300100
Review for gene: ABCD1 was set to GREEN
Added comment: Well established gene-disease association, variable age of onset from childhood to adulthood.
Sources: Expert list
Red cell disorders v0.0 Zornitza Stark Panel deleted
Mendeliome v0.4453 KCNN4 Zornitza Stark Marked gene: KCNN4 as ready
Mendeliome v0.4453 KCNN4 Zornitza Stark Gene: kcnn4 has been classified as Green List (High Evidence).
Mendeliome v0.4453 KCNN4 Zornitza Stark Classified gene: KCNN4 as Green List (high evidence)
Mendeliome v0.4453 KCNN4 Zornitza Stark Gene: kcnn4 has been classified as Green List (High Evidence).
Mendeliome v0.4452 KCNN4 Zornitza Stark gene: KCNN4 was added
gene: KCNN4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN4 were set to 26148990; 26198474; 26178367
Phenotypes for gene: KCNN4 were set to Dehydrated hereditary stomatocytosis 2, MIM# 616689
Review for gene: KCNN4 was set to GREEN
Added comment: At least three families reported.
Sources: Expert list
Mendeliome v0.4451 C15orf41 Zornitza Stark Marked gene: C15orf41 as ready
Mendeliome v0.4451 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Mendeliome v0.4451 C15orf41 Zornitza Stark Classified gene: C15orf41 as Green List (high evidence)
Mendeliome v0.4451 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Mendeliome v0.4450 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Review for gene: C15orf41 was set to GREEN
Added comment: At least 6 families reported, functional data.
Sources: Expert list
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Marked gene: C15orf41 as ready
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Classified gene: C15orf41 as Green List (high evidence)
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.162 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Review for gene: C15orf41 was set to GREEN
Added comment: At least 6 families reported, functional data.
Sources: Expert list
Red cell disorders v0.0 SF3B1 Zornitza Stark gene: SF3B1 was added
gene: SF3B1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: SF3B1 was set to Unknown
Publications for gene: SF3B1 were set to 21995386; 28188970
Phenotypes for gene: SF3B1 were set to 605590 Refractory anaemia with ring sideroblasts
Red cell disorders v0.0 HBE1 Zornitza Stark gene: HBE1 was added
gene: HBE1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: HBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBE1 were set to 17712794
Phenotypes for gene: HBE1 were set to Epsilon-gamma-delta-beta thalassaemia
Red cell disorders v0.0 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX1 were set to 1131421
Phenotypes for gene: GPX1 were set to 614164 Hemolytic anemia due to glutathione peroxidase deficiency
Red cell disorders v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 12815595
Phenotypes for gene: FTCD were set to 229100 Glutamate formiminotransferase deficiency
Red cell disorders v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,Yorkshire and North East GLH
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to 305000 Dyskeratosis congenita, X-linked
Red cell disorders v0.0 CYB5A Zornitza Stark gene: CYB5A was added
gene: CYB5A was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5A were set to 20080843; 8168836
Phenotypes for gene: CYB5A were set to 250790 Methemoglobinemia and ambiguous genitalia
Red cell disorders v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 19444090; 11449489; 17579672
Phenotypes for gene: ATRX were set to 301040 Alpha-thalassemia/mental retardation syndrome
Red cell disorders v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Amber,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSR2 were set to 24942156; 20301769
Phenotypes for gene: TSR2 were set to 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Red cell disorders v0.0 STEAP3 Zornitza Stark gene: STEAP3 was added
gene: STEAP3 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: STEAP3 was set to Unknown
Phenotypes for gene: STEAP3 were set to hypochromic anaemia
Red cell disorders v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS28 were set to 24942156; 20301769
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164; 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
Red cell disorders v0.0 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL18 were set to 28280134
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia
Red cell disorders v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Amber
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 6412025; 16740138
Phenotypes for gene: PGK1 were set to 300653 Phosphoglycerate kinase 1 deficiency
Red cell disorders v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to 613987 Dyskeratosis congenita, autosomal recessive 2
Red cell disorders v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: NDUFB11 was set to Unknown
Phenotypes for gene: NDUFB11 were set to sideroblastic anaemia
Red cell disorders v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: LARS2 was set to Unknown
Phenotypes for gene: LARS2 were set to hydrops/sideroblastic anaemia
Red cell disorders v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 23918765; 20598274; 22504945
Phenotypes for gene: YARS2 were set to 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Red cell disorders v0.0 XK Zornitza Stark gene: XK was added
gene: XK was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: XK were set to 11761473; 17683354
Phenotypes for gene: XK were set to 300842 McLeod syndrome
Red cell disorders v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 9042911
Phenotypes for gene: UMPS were set to 258900 Orotic aciduria with megaloblastic anaemia
Red cell disorders v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to sideroblastic anaemia; 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Red cell disorders v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPI1 were set to 9338582; 11698297
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512; 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder
Red cell disorders v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 18408718
Phenotypes for gene: TMPRSS6 were set to 206200 Iron refractoryirondeficiencyanemia; Iron-Refractory Iron Deficiency Anemia; Iron refractoryirondeficiencyanemia,206200
Red cell disorders v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to 11110675; 1862777; 8187613; 3472216; 10660486
Phenotypes for gene: TF were set to 209300 Congenital hypotransferrinemia; Congenital hypotransferrinemia; Atransferrinemia, 209300
Red cell disorders v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 7849710; 10518276
Phenotypes for gene: TCN2 were set to failure to thrive; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia; neutropenic colitis; thrombocytopenia; 275350 Transcobalamin II deficiency; megaloblastic bone marrow; pancytopenia
Red cell disorders v0.0 SPTB Zornitza Stark gene: SPTB was added
gene: SPTB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 8226774; 3276733
Phenotypes for gene: SPTB were set to Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; 617948 Elliptocytosis-3; RBC membrane abnormality; Spherocytosis,616649; 616649 Spherocytosis, type 2
Red cell disorders v0.0 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTA1 were set to 1679439; 3940543; 4077050
Phenotypes for gene: SPTA1 were set to 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; RBC membrane abnormality; 270970 Spherocytosis, type 3; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600
Red cell disorders v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC4A1 were set to 1722314
Phenotypes for gene: SLC4A1 were set to 166900 Ovalocytosis, SA type; Ovalocytosis, SA type, 166900; 612653 Spherocytosis, type 4; Haemolytic Anemia; Cryohydrocytosis,185020; RBC membrane abnormality; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; Spherocytosis, type 4, 612653
Red cell disorders v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC2A1 were set to 22492876; 21791420
Phenotypes for gene: SLC2A1 were set to 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Stomatocytosis
Red cell disorders v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2
Red cell disorders v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 10391221; 10978358
Phenotypes for gene: SLC19A2 were set to 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome
Red cell disorders v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC11A2 were set to 15459009; 16439678; 16160008
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic, with iron overload 1, 206100; 206100 Anemia, hypochromic microcytic, with iron overload 1
Red cell disorders v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 19561605
Phenotypes for gene: SEC23B were set to 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Congenital Dyserythropoietic Anemia; 224100 Congenital dyserythropoietic anaemia type 2; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Red cell disorders v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome; 260400 Shwachman-Diamond syndrome
Red cell disorders v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS7 were set to 19061985; 27882484; 23718193
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, 612563; 612563 Diamond-Blackfan anemia 8; Diamond-Blackfan Anemia; 612563 Diamond_Blackfan Anemia 8; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 8; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 8
Red cell disorders v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS29 were set to 24829207
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13
Red cell disorders v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS27 were set to 23718193; 25424902
Phenotypes for gene: RPS27 were set to ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17,; Diamond-Blackfan anemia
Red cell disorders v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS26 were set to 23812780; 20116044; 24942156
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10; Diamond_Blackfan Anemia 10; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Inherited Bone Marrow Failure Syndromes; 613309 Diamond-Blackfan anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia
Red cell disorders v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS24 were set to 17186470; 23812780
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 3; Diamond-Blackfan Anemia 3; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 610629 Diamond-blackfan anemia 3; 610629 Diamond_Blackfan Anemia 3
Red cell disorders v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 9988267
Phenotypes for gene: RPS19 were set to 105650 Diamond-Blackfan anemia 1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia; 105650 Diamond_Blackfan Anemia 1; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia
Red cell disorders v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS17 were set to 19953637; 19061985; 17647292; 22045982
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4
Red cell disorders v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS10 were set to 20116044
Phenotypes for gene: RPS10 were set to 613308 Diamond-Blackfan anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 9; Diamond_Blackfan Anemia 9; DIAMOND-BLACKFAN ANEMIA 9; 613308 Diamond_Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 9, 613308; Diamond Blackfan anemia
Red cell disorders v0.0 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL9 were set to 29114930
Phenotypes for gene: RPL9 were set to ?Diamond-Blackfan anaemia; N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia
Red cell disorders v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL5 were set to 19061985
Phenotypes for gene: RPL5 were set to Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia 6; 612561 Diamond-Blackfan anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 6, 612561; Diamond Blackfan anemia
Red cell disorders v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35A were set to 18535205
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, 612528; Diamond_Blackfan Anemia 5; Diamond-Blackfan Anemia; 612528 Diamond_Blackfan Anemia 5; 612528 Diamond-Blackfan anemia 5; Diamond-Blackfan Anemia 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 5
Red cell disorders v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL31 were set to 25424902; 25042156
Phenotypes for gene: RPL31 were set to N/A ? Diamond-Blackfan Anaemia
Red cell disorders v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL27 were set to 25424902
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Red cell disorders v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11
Red cell disorders v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL15 were set to 23812780
Phenotypes for gene: RPL15 were set to 615550 ?Diamond-Blackfan anaemia 12; 615550 ?Diamond-Blackfan anemia 1; ?Diamond-Blackfan anemia 12, 615550
Red cell disorders v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL11 were set to 19061985; 23812780; 23718193
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, 612562; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 7; Diamond Blackfan anemia; 612562 Diamond_Blackfan Anemia 7; 612562 Diamond-Blackfan anemia 7
Red cell disorders v0.0 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RHAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RHAG were set to 18931342
Phenotypes for gene: RHAG were set to 185000 Overhydrated hereditary stomatocytosis; Stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000
Red cell disorders v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 15108122; 15772074
Phenotypes for gene: PUS1 were set to 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
Red cell disorders v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 8664896; 14014643; 7706479
Phenotypes for gene: PKLR were set to Enzyme Disorder; 266200 Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency
Red cell disorders v0.0 PIEZO1 Zornitza Stark gene: PIEZO1 was added
gene: PIEZO1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIEZO1 were set to 22529292; 23695678
Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 194380 Stomatocytosis; Hereditary xerocytosis; Stomatocytosis; 616843 Lymphatic malformation 6
Red cell disorders v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 7513946; 2140573
Phenotypes for gene: PFKM were set to 232800 Glycogen storage disease VII; Glycogen storage disease VII, 232800
Red cell disorders v0.0 NT5C3A Zornitza Stark gene: NT5C3A was added
gene: NT5C3A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 12714505; 11369620
Phenotypes for gene: NT5C3A were set to 266120 Anemia, hemolytic, due to UMPH1 deficiency; Anemia, hemolytic, due to UMPH1 deficiency, 266120
Red cell disorders v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 15714522; 12555939
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type
Red cell disorders v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 9683607; 12068375
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type
Red cell disorders v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 15994876; 17330256
Phenotypes for gene: LPIN2 were set to Majeed syndrome; Congenital dyserythropoietic anemia; Majeed syndrome, 609628; 609628 Majeed syndrome; 609628 Microcytic anemia; CDA; Microcytic anemia
Red cell disorders v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF1 were set to 21055716; 29200155
Phenotypes for gene: KLF1 were set to 613673 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; 613673 Congenital dyserythropoietic anaemia type 4; Dyserythropoietic anemia, congenital, type IV
Red cell disorders v0.0 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF23 were set to 23570799
Phenotypes for gene: KIF23 were set to Anaemia, dyserythropoietic congenital, type III; Enzyme Disorder; CDA III; Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; Congenital dyserythropoietic anemia (CDA)
Red cell disorders v0.0 KCNN4 Zornitza Stark gene: KCNN4 was added
gene: KCNN4 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN4 were set to 26148990; 26178367
Phenotypes for gene: KCNN4 were set to Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2
Red cell disorders v0.0 HSPA9 Zornitza Stark gene: HSPA9 was added
gene: HSPA9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HSPA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPA9 were set to 26491070
Phenotypes for gene: HSPA9 were set to sideroblastic anaemia; 182170 Sideroblastic anaemia 4; Sideroblastic anaemia type 4, 182170; 182170 sideroblastic anaemia type 4
Red cell disorders v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HK1 were set to 12393545; 7655856
Phenotypes for gene: HK1 were set to 235700 Enzyme Disorder; Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency
Red cell disorders v0.0 HBG2 Zornitza Stark gene: HBG2 was added
gene: HBG2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HBG2 were set to 26500940
Phenotypes for gene: HBG2 were set to Cyanosis, transient neonatal, 613977; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder
Red cell disorders v0.0 HBG1 Zornitza Stark gene: HBG1 was added
gene: HBG1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBG1 were set to 26500940
Phenotypes for gene: HBG1 were set to 141749 Hereditary persistance of fetal haemoglobin; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749
Red cell disorders v0.0 HBD Zornitza Stark gene: HBD was added
gene: HBD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBD were set to 27630894; 25490067
Phenotypes for gene: HBD were set to Thalassemiadue to HbLepore; Thalassemia due to Hb Lepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia,delta; Thalassemia, delta
Red cell disorders v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBB were set to 20067565; 23637309
Phenotypes for gene: HBB were set to Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; 141749 Delta-beta thalassaemia; 613985 Thalassemia, beta; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Erythremias, beta-; 603902 Dominand inclusion body beta thalassaemia; 613985 Beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; 603902 Thalassemia-beta, dominant inclusion-body; Globin Disorder; 603903 Sickle cell disease; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; Methemoglobinemias, beta-
Red cell disorders v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBA2 were set to 2050764
Phenotypes for gene: HBA2 were set to Heinz body anemia,140700; Hemoglobin H disease, nondeletional, 613978; 60413 Thalassemia, alpha; Globin Disorder; Hypochromic microcytic anemia; 604131 Alpha thalassaemia; Erythrocytosis; Thalassemia, alpha-, 604131
Red cell disorders v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBA1 were set to 2050764
Phenotypes for gene: HBA1 were set to Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978; Erythremias, alpha-; Methemoglobinemias, alpha-; Globin Disorder; 604131 Alpha thalassaemia; 604131 Thalassemias, alpha
Red cell disorders v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 8896573
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130; Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency; 231900 Enzyme Disorder; 266130 Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency, 231900
Red cell disorders v0.0 GSR Zornitza Stark gene: GSR was added
gene: GSR was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSR were set to 8533822
Phenotypes for gene: GSR were set to Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; NA Enzyme Disorder
Red cell disorders v0.0 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to 411100
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Red cell disorders v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 25342667; 20364084; 17485548
Phenotypes for gene: GLRX5 were set to 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 616860 Pyridoxine refractory sideroblastic anaemia 3
Red cell disorders v0.0 GIF Zornitza Stark gene: GIF was added
gene: GIF was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 15738392; 14576042
Phenotypes for gene: GIF were set to 261000 Intrinsic factor deficiency
Red cell disorders v0.0 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 10515893
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450 Glutamate-cysteine ligase deficiency; Glutamate-cysteine ligase deficiency
Red cell disorders v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 22706301; 24766296; 30228860
Phenotypes for gene: GATA1 were set to 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; 300367 Diamond Blackfan Anaemia; Myelodysplastic syndrome (MDS), Paediatric; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Diamond-Blackfan anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
Red cell disorders v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: G6PD 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: G6PD were set to 18177777
Phenotypes for gene: G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; 300908 Hemolytic anemia due to G6PD deficiency; Enzyme Disorder; 300908 Hemolytic anemia, G6PD deficient (favism)
Red cell disorders v0.0 EPB42 Zornitza Stark gene: EPB42 was added
gene: EPB42 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: EPB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB42 were set to 1558976; 7772513; 12176912
Phenotypes for gene: EPB42 were set to Elliptocytosis; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis; RBC membrane abnormality; 612690 Hereditary spherocytosis type 5; Minkowski-Chauffard disease; 612690 Spherocytosis, type 5
Red cell disorders v0.0 EPB41 Zornitza Stark gene: EPB41 was added
gene: EPB41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: EPB41 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPB41 were set to 8423235; 1430200; 3134067
Phenotypes for gene: EPB41 were set to Elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis-1,611804; Hereditary elliptocytosis; 611804 Hereditary elliptocytosis; RBC membrane abnormality
Red cell disorders v0.0 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
Red cell disorders v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5R3 were set to 18318771; 15921385
Phenotypes for gene: CYB5R3 were set to Methaemoglobinaemia type I and II, 250800; 250800 Methemoglobinemia; 250800 Methaemoglobinaemia type I and II; Methaemoglobinaemia
Red cell disorders v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 17285242; 15024727
Phenotypes for gene: CUBN were set to 261100 Megaloblastic anemia-1, Finnish type; Megaloblastic Anemia; Megaloblastic anemia-1, Finnish type, 261100
Red cell disorders v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Red cell disorders v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 16098079; 12434312
Phenotypes for gene: CDAN1 were set to 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Dyserythropoietic anemia, congenital, type Ia
Red cell disorders v0.0 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Rare anaemia_GEL. Sources: NHS GMS,North West GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 23149847; 1382994; 24382084
Phenotypes for gene: CD59 were set to Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked
Red cell disorders v0.0 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 29885034; 29031773; 23716552
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, 615631; 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib
Red cell disorders v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ANK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ANK1 were set to 9590147; 7883994; 11167760
Phenotypes for gene: ANK1 were set to 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality; Spherocytosis, type 1; RBC membrane abnormality; Spherocytosis, type 1,182900
Red cell disorders v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 17285242; 12590260
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, 261100; 261100 Megaloblastic anemia-1, Norwegian type
Red cell disorders v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 7331996; 8598869
Phenotypes for gene: ALDOA were set to Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder; Glycogen storage disease; 611881 Glycogen storage disease XII; Aldolase A deficiency; 611881 Aldolase A deficiency; Glycogen storage disease XII, 611881
Red cell disorders v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ALAS2 were set to 10029606
Phenotypes for gene: ALAS2 were set to 300751 Sideroblastic anaemia 1; Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Anemia, sideroblastic, 1
Red cell disorders v0.0 AK1 Zornitza Stark gene: AK1 was added
gene: AK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK1 were set to 28211224
Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency, 612631; 612631 Hemolytic anemia due to adenylate kinase deficiency
Red cell disorders v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Diamond Blackfan anaemia
Red cell disorders v0.0 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG8 were set to sitosterolaemia; 210250 sitosterolaemia
Red cell disorders v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to sitosterolaemia; 210250 sitosterolaemia
Red cell disorders v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCB7 were set to 11050011; 11843825; 4045952
Phenotypes for gene: ABCB7 were set to 301310 Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310; Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; 301310 Sideroblastic anaemia
Red cell disorders v0.0 Zornitza Stark Added panel Rare anaemia_GEL
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.28 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.27 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Chromosome Breakage Disorders. Sources: Expert list
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247
Review for gene: XRCC2 was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Mendeliome v0.4449 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Mendeliome v0.4449 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4449 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247
Mendeliome v0.4448 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to
Mendeliome v0.4447 XRCC2 Zornitza Stark Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4446 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Mendeliome v0.4446 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4445 XRCC2 Zornitza Stark reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208205, 22232082, 11118202; Phenotypes: Fanconi anemia, complementation group U, MIM# 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247
Bone Marrow Failure v0.160 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to
Bone Marrow Failure v0.159 XRCC2 Zornitza Stark Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.158 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Bone Marrow Failure v0.158 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.157 XRCC2 Zornitza Stark reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208205, 22232082, 11118202; Phenotypes: Fanconi anemia, complementation group U, MIM# 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.197 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.196 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Review for gene: WIPF1 was set to GREEN
Added comment: Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.156 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Review for gene: WIPF1 was set to GREEN
Added comment: Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.16 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Pierre Robin Sequence v0.15 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Pierre Robin Sequence v0.14 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pierre Robin Sequence v0.13 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Pierre Robin Sequence v0.13 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Pierre Robin Sequence v0.12 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4445 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Mendeliome v0.4445 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mendeliome v0.4445 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Mendeliome v0.4444 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Mendeliome v0.4443 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4442 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Mendeliome v0.4442 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mendeliome v0.4441 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mandibulofacial Acrofacial dysostosis v0.14 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Mandibulofacial Acrofacial dysostosis v0.13 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Mandibulofacial Acrofacial dysostosis v0.12 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mandibulofacial Acrofacial dysostosis v0.11 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Mandibulofacial Acrofacial dysostosis v0.11 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Mandibulofacial Acrofacial dysostosis v0.10 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.32 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Diamond Blackfan anaemia v0.31 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Diamond Blackfan anaemia v0.30 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Diamond Blackfan anaemia v0.29 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Diamond Blackfan anaemia v0.29 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.28 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Bone Marrow Failure v0.154 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Bone Marrow Failure v0.154 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.153 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Bone Marrow Failure v0.153 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.152 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4441 SRP72 Zornitza Stark Tag disputed tag was added to gene: SRP72.
Mendeliome v0.4441 SRP72 Zornitza Stark Marked gene: SRP72 as ready
Mendeliome v0.4441 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4441 SRP72 Zornitza Stark Phenotypes for gene: SRP72 were changed from to Bone marrow failure syndrome 1, MIM# 614675
Mendeliome v0.4440 SRP72 Zornitza Stark Publications for gene: SRP72 were set to
Mendeliome v0.4439 SRP72 Zornitza Stark Mode of inheritance for gene: SRP72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4438 SRP72 Zornitza Stark Classified gene: SRP72 as Amber List (moderate evidence)
Mendeliome v0.4438 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4437 SRP72 Zornitza Stark reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: None; Publications: 22541560, 31254415; Phenotypes: Bone marrow failure syndrome 1, MIM# 614675; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Marked gene: SRP72 as ready
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Phenotypes for gene: SRP72 were changed from to Bone marrow failure syndrome 1, MIM# 614675
Bone Marrow Failure v0.151 SRP72 Zornitza Stark Publications for gene: SRP72 were set to
Bone Marrow Failure v0.150 SRP72 Zornitza Stark Mode of inheritance for gene: SRP72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.149 SRP72 Zornitza Stark Classified gene: SRP72 as Amber List (moderate evidence)
Bone Marrow Failure v0.149 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.148 SRP72 Zornitza Stark Tag disputed tag was added to gene: SRP72.
Bone Marrow Failure v0.148 SRP72 Zornitza Stark reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: None; Publications: 22541560, 31254415; Phenotypes: Bone marrow failure syndrome 1, MIM# 614675; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from to Schimke immunoosseous dysplasia, MIM# 242900
Bone Marrow Failure v0.147 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Bone Marrow Failure v0.146 SMARCAL1 Zornitza Stark Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SMARCAL1 Zornitza Stark reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11799392, 17089404; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anemia, complementation group P, MIM# 613951
Bone Marrow Failure v0.144 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Bone Marrow Failure v0.143 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.142 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib, MIM# 232220
Bone Marrow Failure v0.141 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Bone Marrow Failure v0.140 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.139 SLC37A4 Zornitza Stark reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788408, 31536830; Phenotypes: Glycogen storage disease Ib, MIM# 232220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4437 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Mendeliome v0.4437 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mendeliome v0.4437 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Mendeliome v0.4436 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Mendeliome v0.4435 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4434 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: 19412178; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Bone Marrow Failure v0.138 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Bone Marrow Failure v0.137 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.136 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: 19412178; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Classified gene: SLC19A2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.389 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.388 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 10391221; 10978358
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Review for gene: SLC19A2 was set to GREEN
Added comment: Over 5 unrelated families reported, sensorineural deafness is part of the phenotype.
Sources: Expert Review
Mendeliome v0.4434 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Mendeliome v0.4434 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Mendeliome v0.4434 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Mendeliome v0.4433 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Mendeliome v0.4432 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4431 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 10978358; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Bone Marrow Failure v0.135 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Bone Marrow Failure v0.134 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.133 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 10978358; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.80 ATP7B Zornitza Stark Classified gene: ATP7B as Amber List (moderate evidence)
Paroxysmal Dyskinesia v0.80 ATP7B Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence).
Paroxysmal Dyskinesia v0.79 ATP7B Zornitza Stark changed review comment from: In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).

Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel.; to: In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).

Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel. However, there are rare reports and this is a treatable disorder.
Paroxysmal Dyskinesia v0.79 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: AMBER
Mendeliome v0.4431 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Mendeliome v0.4431 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Mendeliome v0.4431 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II , MIM#224100
Mendeliome v0.4430 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Mendeliome v0.4429 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4428 SEC23B Zornitza Stark commented on gene: SEC23B: Over 20 families reported.
Mendeliome v0.4428 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II , MIM#224100
Bone Marrow Failure v0.132 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Bone Marrow Failure v0.131 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.130 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Bone Marrow Failure v0.129 RUNX1 Zornitza Stark Publications for gene: RUNX1 were set to
Bone Marrow Failure v0.128 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.127 RUNX1 Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508512, 11830488; Phenotypes: Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4428 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Mendeliome v0.4428 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Mendeliome v0.4428 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Mendeliome v0.4427 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Mendeliome v0.4426 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4425 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Mendeliome v0.4425 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Mendeliome v0.4424 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.28 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Diamond Blackfan anaemia v0.27 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Diamond Blackfan anaemia v0.26 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.25 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Diamond Blackfan anaemia v0.25 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.24 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Bone Marrow Failure v0.126 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Bone Marrow Failure v0.125 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.124 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Bone Marrow Failure v0.124 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.123 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.73 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Mendeliome v0.4424 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Mendeliome v0.4424 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Mendeliome v0.4424 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Radial Ray Abnormalities v0.72 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Radial Ray Abnormalities v0.71 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4423 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Mendeliome v0.4422 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.70 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4421 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v0.24 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Diamond Blackfan anaemia v0.23 RPS17 Zornitza Stark Publications for gene: RPS17 were set to
Diamond Blackfan anaemia v0.22 RPS17 Zornitza Stark Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.21 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 17647292, 19061985, 23812780, 23718193; Phenotypes: Diamond-Blackfan anemia 4, MIM# 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Classified gene: RPS17 as Green List (high evidence)
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.122 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS17 were set to 17647292; 19061985; 23812780; 23718193
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, MIM# 612527
Review for gene: RPS17 was set to GREEN
Added comment: Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anaemia, reticulocytopaenia, and nearly absent erythroid progenitors in the bone marrow. Individuals show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of haemoglobin F. However, some do not exhibit these findings, and even in the same family, symptoms can vary between affected family members. At least 5 families reported with variants in this gene.
Sources: Expert list
Mendeliome v0.4421 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Mendeliome v0.4421 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Mendeliome v0.4421 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Bone Marrow Failure v0.121 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Bone Marrow Failure v0.121 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.121 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Diamond Blackfan anaemia v0.21 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Diamond Blackfan anaemia. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Mendeliome v0.4420 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Mendeliome v0.4420 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4420 RPL31 Zornitza Stark Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia
Mendeliome v0.4419 RPL31 Zornitza Stark Publications for gene: RPL31 were set to
Mendeliome v0.4418 RPL31 Zornitza Stark Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4417 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Mendeliome v0.4417 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4416 RPL31 Zornitza Stark reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.20 RPL31 Zornitza Stark Phenotypes for gene: RPL31 were changed from to Diamond Blackfan anaemia
Diamond Blackfan anaemia v0.19 RPL31 Zornitza Stark Publications for gene: RPL31 were set to
Diamond Blackfan anaemia v0.18 RPL31 Zornitza Stark Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v0.17 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Diamond Blackfan anaemia v0.17 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Diamond Blackfan anaemia v0.16 RPL31 Zornitza Stark reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: None; Publications: 25042156, 25424902; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.119 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL31 were set to 25042156; 25424902
Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia
Review for gene: RPL31 was set to AMBER
Added comment: Three individuals reported with DBA phenotype and variants in this gene: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS.
Sources: Expert list
Mendeliome v0.4416 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Mendeliome v0.4416 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Mendeliome v0.4416 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Mendeliome v0.4415 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Mendeliome v0.4414 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4413 PUS1 Zornitza Stark reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Bone Marrow Failure v0.117 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Bone Marrow Failure v0.116 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.115 PUS1 Zornitza Stark reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4413 OXSR1 Zornitza Stark Marked gene: OXSR1 as ready
Mendeliome v0.4413 OXSR1 Zornitza Stark Gene: oxsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.4413 OXSR1 Zornitza Stark Classified gene: OXSR1 as Red List (low evidence)
Mendeliome v0.4413 OXSR1 Zornitza Stark Gene: oxsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.4412 OXSR1 Zornitza Stark reviewed gene: OXSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Bone Marrow Failure v0.114 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 NPM1 Zornitza Stark reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.90 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Cancer Predisposition_Paediatric v0.89 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Cancer Predisposition_Paediatric v0.88 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.87 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4412 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Mendeliome v0.4412 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Mendeliome v0.4412 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Mendeliome v0.4411 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Mendeliome v0.4410 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4409 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4409 GGT1 Elena Savva reviewed gene: GGT1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29483667, 23615310; Phenotypes: ?Glutathioninuria 231950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4409 JPT1 Elena Savva reviewed gene: JPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Bone Marrow Failure v0.112 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Bone Marrow Failure v0.111 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.110 NHP2 Zornitza Stark edited their review of gene: NHP2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.110 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: ; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: None
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Bone Marrow Failure v0.109 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Bone Marrow Failure v0.108 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.107 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973259, 10973260; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4409 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Mendeliome v0.4409 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Mendeliome v0.4409 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Mendeliome v0.4408 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Mendeliome v0.4407 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4406 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.26 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Chromosome Breakage Disorders v0.25 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Chromosome Breakage Disorders v0.24 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Chromosome Breakage Disorders v0.23 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.106 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Bone Marrow Failure v0.105 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Bone Marrow Failure v0.104 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.104 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF23 were set to 23570799
Phenotypes for gene: KIF23 were set to Congenital dyserythropoietic anemia type III
Review for gene: KIF23 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Mendeliome v0.4406 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Mendeliome v0.4406 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4406 HOXA11 Zornitza Stark Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Mendeliome v0.4405 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to
Mendeliome v0.4404 HOXA11 Zornitza Stark Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4403 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Mendeliome v0.4403 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4402 HOXA11 Zornitza Stark reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832, 16765069; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.195 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.195 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.194 HOXA11 Zornitza Stark commented on gene: HOXA11: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. Two families reported in 2000, segregating same variant. Some functional data. No further reports since.
Bone Marrow Failure v0.103 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to 11101832
Bleeding and Platelet Disorders v0.194 HOXA11 Zornitza Stark edited their review of gene: HOXA11: Changed rating: AMBER; Changed phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark edited their review of gene: HOXA11: Changed publications: 11101832, 16765069
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Bone Marrow Failure v0.101 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to
Bone Marrow Failure v0.100 HOXA11 Zornitza Stark Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.99 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Bone Marrow Failure v0.99 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.98 HOXA11 Zornitza Stark reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.98 Zornitza Stark removed gene:GP1BA from the panel
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Bone Marrow Failure v0.96 GLRX5 Zornitza Stark Publications for gene: GLRX5 were set to
Bone Marrow Failure v0.95 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.94 GLRX5 Zornitza Stark reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17485548, 25342667, 30660387; Phenotypes: Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.94 FECH Zornitza Stark Marked gene: FECH as ready
Bone Marrow Failure v0.94 FECH Zornitza Stark Gene: fech has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.94 FECH Zornitza Stark Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1, MIM# 177000
Bone Marrow Failure v0.93 FECH Zornitza Stark Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.92 FECH Zornitza Stark Classified gene: FECH as Red List (low evidence)
Bone Marrow Failure v0.92 FECH Zornitza Stark Gene: fech has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.91 FECH Zornitza Stark reviewed gene: FECH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272
Bone Marrow Failure v0.90 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Bone Marrow Failure v0.89 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.88 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.88 DDX41 Zornitza Stark edited their review of gene: DDX41: Added comment: Approximately half of individuals reported in this cohort experienced cytopaenia in the years preceding the diagnosis of a malignancy.; Changed publications: 31698430, 31484648; Changed phenotypes: {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1, MIM# 300751
Bone Marrow Failure v0.87 ALAS2 Zornitza Stark Publications for gene: ALAS2 were set to
Bone Marrow Failure v0.86 ALAS2 Zornitza Stark Mode of inheritance for gene: ALAS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.85 ALAS2 Zornitza Stark reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1, MIM# 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.85 AK2 Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416; Phenotypes: Reticular dysgenesis, MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anemia, sideroblastic, with ataxia, MIM# 301310
Bone Marrow Failure v0.84 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Bone Marrow Failure v0.83 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.82 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ataxia v0.257 XRCC1 Zornitza Stark Tag founder tag was added to gene: XRCC1.
Ataxia v0.257 UCHL1 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype. Two unrelated families and a mouse model.
Sources: Expert list
Ataxia v0.257 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Changed publications: 28007905, 23359680, 11555633
Regression v0.161 TGM6 Zornitza Stark Tag disputed was removed from gene: TGM6.
Tag refuted tag was added to gene: TGM6.
Mendeliome v0.4402 TGM6 Zornitza Stark Marked gene: TGM6 as ready
Mendeliome v0.4402 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Mendeliome v0.4402 TGM6 Zornitza Stark Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908
Mendeliome v0.4401 TGM6 Zornitza Stark Publications for gene: TGM6 were set to
Mendeliome v0.4400 TGM6 Zornitza Stark Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4399 TGM6 Zornitza Stark Classified gene: TGM6 as Red List (low evidence)
Mendeliome v0.4399 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Mendeliome v0.4398 TGM6 Zornitza Stark Tag refuted tag was added to gene: TGM6.
Mendeliome v0.4398 TGM6 Zornitza Stark Deleted their comment
Regression v0.161 TGM6 Zornitza Stark Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908
Mendeliome v0.4398 TGM6 Zornitza Stark reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: 30670339, 32426513; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.160 TGM6 Zornitza Stark Publications for gene: TGM6 were set to
Regression v0.159 TGM6 Zornitza Stark Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.158 TGM6 Zornitza Stark Classified gene: TGM6 as Red List (low evidence)
Regression v0.158 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Regression v0.157 TGM6 Zornitza Stark Tag disputed tag was added to gene: TGM6.
Regression v0.157 TGM6 Zornitza Stark edited their review of gene: TGM6: Added comment: Recent publication refutes the association of this gene with SCA:
In a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.; Changed publications: 30670339, 32426513
Regression v0.157 TGM6 Zornitza Stark reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3007 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Intellectual disability syndromic and non-syndromic v0.3007 SVBP Zornitza Stark reviewed gene: SVBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.481 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Microcephaly v0.481 SVBP Zornitza Stark changed review comment from: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.4398 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Mendeliome v0.4398 SVBP Zornitza Stark changed review comment from: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Ataxia v0.257 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Ataxia v0.257 SVBP Zornitza Stark changed review comment from: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature; to: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Mendeliome v0.4398 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Mendeliome v0.4398 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Mendeliome v0.4398 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Mendeliome v0.4397 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Mendeliome v0.4396 SQSTM1 Zornitza Stark Mode of inheritance for gene: SQSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4395 SQSTM1 Zornitza Stark changed review comment from: Four unrelated families, presenting feature of this progressive neurological disorder was ataxia.; to: Nine individuals from four unrelated families.
Ataxia v0.257 SLC52A2 Zornitza Stark changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Generally presents with a range of neuropathies but ataxia described. Treatable condition.
Ataxia v0.257 SLC52A2 Zornitza Stark edited their review of gene: SLC52A2: Changed publications: 30377535
Ataxia v0.257 SLC44A1 Zornitza Stark edited their review of gene: SLC44A1: Changed phenotypes: Childhood-onset neurodegeneration, progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Mitochondrial disease v0.489 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mitochondrial disease v0.488 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.487 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4395 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Mendeliome v0.4395 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Mendeliome v0.4395 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Mendeliome v0.4394 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mendeliome v0.4393 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4392 SLC25A46 Zornitza Stark changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.
Mendeliome v0.4392 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379
Ataxia v0.257 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, 616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505
Ataxia v0.256 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Ataxia v0.255 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

Nine unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.
Ataxia v0.255 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379
Ataxia v0.255 SLC25A46 Zornitza Stark changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

Nine unrelated families reported, supportive functional data.
Ataxia v0.255 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502
Ataxia v0.255 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Ataxia v0.254 SLC17A5 Zornitza Stark edited their review of gene: SLC17A5: Changed publications: 26171070
Lymphoedema v0.5 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Lymphoedema v0.5 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Ataxia v0.254 SCYL1 Zornitza Stark changed review comment from: Childhood onset.; to: Childhood onset, at least 7 unrelated families reported.
Ataxia v0.254 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Ataxia v0.254 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Ataxia v0.254 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 to Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia v0.253 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Ataxia v0.252 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904124, 31887642, 31675620; Phenotypes: Cognitive impairment with or without cerebellar ataxia, MIM# 614306, Epileptic encephalopathy, early infantile, 13, MIM# 614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.252 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia.
Ataxia v0.252 SCN2A Zornitza Stark edited their review of gene: SCN2A: Changed publications: 31924505, 32893078, 31904126
Ataxia v0.252 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Ataxia v0.251 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed publications: 27264139, 27817982, 28732259
Ataxia v0.251 RUBCN Zornitza Stark changed review comment from: Two consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia.; to: Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant.
Ataxia v0.251 RUBCN Zornitza Stark edited their review of gene: RUBCN: Changed publications: 20826435, 30237576, 32450808
Genetic Epilepsy v0.860 RORA Zornitza Stark Marked gene: RORA as ready
Genetic Epilepsy v0.860 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Genetic Epilepsy v0.860 RORA Zornitza Stark Phenotypes for gene: RORA were changed from to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060
Genetic Epilepsy v0.859 RORA Zornitza Stark Publications for gene: RORA were set to
Genetic Epilepsy v0.858 RORA Zornitza Stark Mode of inheritance for gene: RORA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.857 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4392 RORA Zornitza Stark Marked gene: RORA as ready
Mendeliome v0.4392 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Mendeliome v0.4392 RORA Zornitza Stark Phenotypes for gene: RORA were changed from to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060
Mendeliome v0.4391 RORA Zornitza Stark Publications for gene: RORA were set to
Mendeliome v0.4390 RORA Zornitza Stark Mode of inheritance for gene: RORA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4389 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.251 RORA Zornitza Stark changed review comment from: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia; to: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia.

Postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Ataxia v0.251 RORA Zornitza Stark Marked gene: RORA as ready
Ataxia v0.251 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Ataxia v0.251 RORA Zornitza Stark Publications for gene: RORA were set to
Ataxia v0.250 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.250 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Ataxia v0.250 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Ataxia v0.250 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Ataxia v0.249 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301774; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.249 PEX7 Zornitza Stark edited their review of gene: PEX7: Changed publications: 25851898
Ataxia v0.249 OPA1 Zornitza Stark Publications for gene: OPA1 were set to 30165240
Ataxia v0.248 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28494813; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.248 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Ataxia v0.248 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Ataxia v0.248 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Ataxia v0.248 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Ataxia v0.247 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 28402445
Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688; Cerebellar ataxia
Review for gene: MORC2 was set to GREEN
Added comment: The p.Thr362Arg variant has been reported as a de novo event in unrelated families with cerebellar ataxia in addition to CMT and nocturnal hypoventilation.
Sources: Expert list
Mendeliome v0.4389 MAPK8IP3 Zornitza Stark Deleted their comment
Mendeliome v0.4389 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Added comment: 18 unrelated individuals reported with de novo variants and a neurodevelopmental disorder characterised by global developmental delay, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and nonspecific dysmorphic facial features are described.; Changed publications: 30612693, 30945334
Intellectual disability syndromic and non-syndromic v0.3007 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Intellectual disability syndromic and non-syndromic v0.3006 MAPK8IP3 Zornitza Stark reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30612693, 30945334; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.246 MAPK8IP3 Zornitza Stark Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Ataxia v0.245 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Ataxia v0.244 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence)
Ataxia v0.244 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Ataxia v0.243 MAPK8IP3 Zornitza Stark changed review comment from: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature; to: 18 reported individuals of whom 2 had ataxia.
Sources: Literature
Ataxia v0.243 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Changed publications: 30612693, 30945334
Ataxia v0.243 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Changed rating: AMBER
Mendeliome v0.4389 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Mendeliome v0.4389 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Mendeliome v0.4389 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Mendeliome v0.4388 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Mendeliome v0.4387 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4386 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Perrault syndrome 4, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.243 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Ataxia v0.243 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Ataxia v0.243 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Ataxia v0.242 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Ataxia v0.241 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337; Phenotypes: Perrault syndrome 4, MIM# 615300, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.241 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to 26932191
Mendeliome v0.4386 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Mendeliome v0.4386 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Mendeliome v0.4386 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from to Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts; Poretti Boltshauser syndrome MIM#615960
Mendeliome v0.4385 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to
Mendeliome v0.4384 LAMA1 Zornitza Stark Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4383 LAMA1 Zornitza Stark edited their review of gene: LAMA1: Changed publications: 25105227
Mendeliome v0.4383 LAMA1 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Five unrelated families reported.
Sources: Expert list
Ataxia v0.240 LAMA1 Zornitza Stark commented on gene: LAMA1: Five unrelated families reported.
Ataxia v0.240 LAMA1 Zornitza Stark edited their review of gene: LAMA1: Changed publications: 25105227
Intellectual disability syndromic and non-syndromic v0.3006 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Intellectual disability syndromic and non-syndromic v0.3006 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3006 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Intellectual disability syndromic and non-syndromic v0.3005 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Intellectual disability syndromic and non-syndromic v0.3004 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3003 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.857 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Genetic Epilepsy v0.857 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.857 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Genetic Epilepsy v0.856 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Genetic Epilepsy v0.855 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.854 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4383 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Mendeliome v0.4383 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Mendeliome v0.4383 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Mendeliome v0.4382 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Mendeliome v0.4381 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4380 KCNA2 Zornitza Stark Deleted their comment
Mendeliome v0.4380 KCNA2 Zornitza Stark commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Ataxia v0.240 KCNA2 Zornitza Stark commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Ataxia v0.240 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
Mitochondrial disease v0.487 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Mitochondrial disease v0.487 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.487 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Mitochondrial disease v0.486 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Mitochondrial disease v0.485 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.484 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4380 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Mendeliome v0.4380 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Mendeliome v0.4380 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Mendeliome v0.4379 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Mendeliome v0.4378 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4377 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.240 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Ataxia v0.240 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia v0.240 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM# 614926
Ataxia v0.239 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Ataxia v0.238 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Ataxia v0.238 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia v0.237 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.237 GSS Zornitza Stark Marked gene: GSS as ready
Ataxia v0.237 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Ataxia v0.237 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Gluthathione synthetase deficiency to Gluthathione synthetase deficiency, MIM# 266130
Ataxia v0.236 GSS Zornitza Stark Publications for gene: GSS were set to
Ataxia v0.235 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 15717202; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.235 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Ataxia v0.235 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Ataxia v0.235 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471
Ataxia v0.234 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Ataxia v0.233 FBXL4 Zornitza Stark reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28383868; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4377 ELOVL5 Zornitza Stark reviewed gene: ELOVL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 38, MIM# 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3003 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Intellectual disability syndromic and non-syndromic v0.3003 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3003 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Intellectual disability syndromic and non-syndromic v0.3002 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Intellectual disability syndromic and non-syndromic v0.3001 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3000 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4377 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Mendeliome v0.4377 EBF3 Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence).
Mendeliome v0.4377 EBF3 Zornitza Stark Phenotypes for gene: EBF3 were changed from to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Mendeliome v0.4376 EBF3 Zornitza Stark Publications for gene: EBF3 were set to
Mendeliome v0.4375 EBF3 Zornitza Stark Mode of inheritance for gene: EBF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4374 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.233 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3000 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Intellectual disability syndromic and non-syndromic v0.3000 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3000 DOCK3 Zornitza Stark Phenotypes for gene: DOCK3 were changed from to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Intellectual disability syndromic and non-syndromic v0.2999 DOCK3 Zornitza Stark Publications for gene: DOCK3 were set to
Intellectual disability syndromic and non-syndromic v0.2998 DOCK3 Zornitza Stark Mode of inheritance for gene: DOCK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2997 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4374 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Mendeliome v0.4374 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Mendeliome v0.4374 DOCK3 Zornitza Stark Phenotypes for gene: DOCK3 were changed from to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Mendeliome v0.4373 DOCK3 Zornitza Stark Publications for gene: DOCK3 were set to
Mendeliome v0.4372 DOCK3 Zornitza Stark Mode of inheritance for gene: DOCK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4371 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.233 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.233 CSTB Zornitza Stark changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Marked gene: CSTB as ready
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.8 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Progressive Myoclonic Epilepsy v0.7 CSTB Zornitza Stark Publications for gene: CSTB were set to
Progressive Myoclonic Epilepsy v0.6 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Progressive Myoclonic Epilepsy v0.6 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.22 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Mackenzie's Mission_Reproductive Carrier Screening v0.22 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: None
Ataxia v0.233 CSTB Zornitza Stark Tag STR tag was added to gene: CSTB.
Ataxia v0.233 CSTB Zornitza Stark Marked gene: CSTB as ready
Ataxia v0.233 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Ataxia v0.233 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800
Ataxia v0.232 CSTB Zornitza Stark Publications for gene: CSTB were set to
Ataxia v0.231 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Ataxia v0.231 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.231 CLPP Zornitza Stark Marked gene: CLPP as ready
Ataxia v0.231 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Ataxia v0.231 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3, MIM# 614129
Ataxia v0.230 CLPP Zornitza Stark Publications for gene: CLPP were set to
Ataxia v0.229 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.229 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Ataxia v0.229 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Ataxia v0.229 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis neuronal 5 to Ceroid lipofuscinosis neuronal 5, MIM# 256731
Ataxia v0.228 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4371 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Mendeliome v0.4371 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Mendeliome v0.4371 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Mendeliome v0.4370 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Mendeliome v0.4369 ATP8A2 Zornitza Stark Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4368 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list
Ataxia v0.228 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list
Ataxia v0.228 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list; to: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2997 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Intellectual disability syndromic and non-syndromic v0.2997 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2997 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Intellectual disability syndromic and non-syndromic v0.2996 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Intellectual disability syndromic and non-syndromic v0.2995 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2994 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.228 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinate-semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Ataxia v0.227 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Ataxia v0.227 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Ataxia v0.227 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Ataxia v0.226 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.22 ADPRHL2 Zornitza Stark gene: ADPRHL2 was added
gene: ADPRHL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
new gene name tags were added to gene: ADPRHL2.
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Review for gene: ADPRHL2 was set to GREEN
Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

New HGNC approved name is ADPRS.
Sources: Expert Review
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.77 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Regression v0.157 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Regression v0.157 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Regression v0.157 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Regression v0.157 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Genetic Epilepsy v0.854 ADPRHL2 Zornitza Stark reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Mendeliome v0.4368 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Ataxia v0.226 ADPRHL2 Zornitza Stark Publications for gene: ADPRHL2 were set to
Ataxia v0.225 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Ataxia v0.225 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Ataxia v0.225 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Ataxia v0.225 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Ataxia v0.225 ADPRHL2 Zornitza Stark Deleted their comment
Ataxia v0.225 ADPRHL2 Zornitza Stark edited their review of gene: ADPRHL2: Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy; Changed publications: 30100084, 30401461
Ataxia v0.225 ACO2 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be a presenting feature. Episodic ataxia also reported.
Sources: Expert list
Ataxia v0.225 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 32519519
Achromatopsia v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Achromatopsia v0.27 PDE6H Zornitza Stark changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.
Achromatopsia v0.27 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Achromatopsia v0.27 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Achromatopsia v0.27 PDE6H Zornitza Stark Publications for gene: PDE6H were set to
Achromatopsia v0.26 PDE6H Zornitza Stark Mode of inheritance for gene: PDE6H was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.25 PDE6H Zornitza Stark reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6, MIM# 610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.25 PDE6C Zornitza Stark Marked gene: PDE6C as ready
Achromatopsia v0.25 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Achromatopsia v0.25 PDE6C Zornitza Stark Phenotypes for gene: PDE6C were changed from Achromatopsia-5 to Achromatopsia-5; Cone dystrophy 4, MIM# 613093
Achromatopsia v0.24 PDE6C Zornitza Stark Publications for gene: PDE6C were set to
Achromatopsia v0.23 PDE6C Zornitza Stark reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4368 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Mendeliome v0.4368 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Mendeliome v0.4368 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from to Achromatopsia 3, MIM# 262300
Mendeliome v0.4367 CNGB3 Zornitza Stark Publications for gene: CNGB3 were set to
Mendeliome v0.4366 CNGB3 Zornitza Stark Mode of inheritance for gene: CNGB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4365 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.23 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Achromatopsia v0.23 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Achromatopsia v0.23 CNGB3 Zornitza Stark Publications for gene: CNGB3 were set to
Achromatopsia v0.22 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4365 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Mendeliome v0.4365 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Mendeliome v0.4365 CNGA3 Zornitza Stark Phenotypes for gene: CNGA3 were changed from to Achromatopsia 2, MIM# 216900
Mendeliome v0.4364 CNGA3 Zornitza Stark Publications for gene: CNGA3 were set to
Mendeliome v0.4363 CNGA3 Zornitza Stark Mode of inheritance for gene: CNGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4362 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Achromatopsia v0.22 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Achromatopsia v0.22 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Achromatopsia v0.22 CNGA3 Zornitza Stark Publications for gene: CNGA3 were set to
Achromatopsia v0.21 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.52 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Macrocephaly_Megalencephaly v0.52 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.52 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Macrocephaly_Megalencephaly v0.51 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Macrocephaly_Megalencephaly v0.50 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.49 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2994 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Intellectual disability syndromic and non-syndromic v0.2994 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2994 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Intellectual disability syndromic and non-syndromic v0.2993 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Intellectual disability syndromic and non-syndromic v0.2992 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2991 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4362 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Mendeliome v0.4362 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Mendeliome v0.4362 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Mendeliome v0.4361 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Mendeliome v0.4360 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4359 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.86 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Rasopathy v0.86 SPRED1 Zornitza Stark Gene: spred1 has been classified as Green List (High Evidence).
Rasopathy v0.86 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431
Rasopathy v0.85 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Rasopathy v0.84 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.83 SPRED1 Zornitza Stark reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.83 SOS2 Zornitza Stark edited their review of gene: SOS2: Changed publications: 26173643, 25795793, 32788663
Rasopathy v0.83 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 25795793; 32788663
Lymphoedema v0.5 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 25795793; 26173643
Lymphoedema v0.4 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.197 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Hydrops fetalis v0.197 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.197 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559
Hydrops fetalis v0.196 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Hydrops fetalis v0.195 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 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
Hydrops fetalis v0.194 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.193 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4359 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 26173643
Mendeliome v0.4358 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 26173643
Mendeliome v0.4357 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.4356 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.82 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Rasopathy v0.82 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Rasopathy v0.82 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559
Rasopathy v0.81 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Rasopathy v0.80 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 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
Rasopathy v0.79 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.78 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2991 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Intellectual disability syndromic and non-syndromic v0.2991 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2991 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4, MIM# 610733
Intellectual disability syndromic and non-syndromic v0.2990 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Intellectual disability syndromic and non-syndromic v0.2989 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 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 v0.2988 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2987 SOS1 Zornitza Stark reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, MIM# 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4356 SOS1 Zornitza Stark Publications for gene: SOS1 were set to 25062969; 17143285; 17143282
Mendeliome v0.4355 SOS1 Zornitza Stark edited their review of gene: SOS1: Added comment: Over 50 individuals reported with SOS1 variants and a Noonan syndrome phenotype. Pulmonic stenosis tends to be more frequent compared to those with PTPN11 mutations, and atrial septal defect is relatively rare. Ectodermal features including keratosis pilaris and curly hair are significantly more prevalent compared with the general Noonan population. Height below the third percentile and learning disability are observed in fewer individuals compared with Noonan syndrome in general. In contrast, macrocephaly is overrepresented among those with SOS1 mutations.; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 17143285, 17143282, 28884940, 17586837; Changed phenotypes: Noonan syndrome 4, MIM# 610733; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.78 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Rasopathy v0.78 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Rasopathy v0.78 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4, MIM# 610733
Rasopathy v0.77 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Rasopathy v0.76 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.75 SOS1 Zornitza Stark reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, MIM# 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.69 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Congenital Heart Defect v0.69 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.69 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Congenital Heart Defect v0.68 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Congenital Heart Defect v0.67 SHOC2 Zornitza Stark Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.66 SHOC2 Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4355 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Mendeliome v0.4355 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Mendeliome v0.4355 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Mendeliome v0.4354 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Mendeliome v0.4353 SHOC2 Zornitza Stark Mode of pathogenicity for gene: SHOC2 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 v0.4352 SHOC2 Zornitza Stark Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4351 SHOC2 Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.75 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Rasopathy v0.75 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Rasopathy v0.75 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Rasopathy v0.74 SHOC2 Zornitza Stark Publications for gene: SHOC2 were set to
Rasopathy v0.73 SHOC2 Zornitza Stark Mode of pathogenicity for gene: SHOC2 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
Rasopathy v0.72 SHOC2 Zornitza Stark Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.71 SHOC2 Zornitza Stark reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.71 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Rasopathy v0.71 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Rasopathy v0.71 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from to Noonan syndrome 8, MIM# 615355
Rasopathy v0.70 RIT1 Zornitza Stark Publications for gene: RIT1 were set to
Rasopathy v0.69 RIT1 Zornitza Stark Mode of pathogenicity for gene: RIT1 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
Rasopathy v0.68 RIT1 Zornitza Stark Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4351 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Mendeliome v0.4351 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Mendeliome v0.4351 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from to Noonan syndrome 8, MIM# 615355
Mendeliome v0.4350 RIT1 Zornitza Stark Publications for gene: RIT1 were set to
Mendeliome v0.4349 RIT1 Zornitza Stark Mode of pathogenicity for gene: RIT1 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 v0.4348 RIT1 Zornitza Stark Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4347 RIT1 Zornitza Stark reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23791108, 25124994, 24939608, 27101134; Phenotypes: Noonan syndrome 8, MIM# 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.67 RIT1 Zornitza Stark reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23791108, 25124994, 24939608, 27101134; Phenotypes: Noonan syndrome 8, MIM# 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.67 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Rasopathy v0.67 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Rasopathy v0.67 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553
Rasopathy v0.66 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Rasopathy v0.65 RAF1 Zornitza Stark Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Rasopathy v0.64 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.63 RAF1 Zornitza Stark reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17603483, 17603482, 31145547, 31030682, 29271604; Phenotypes: Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4347 NRAS Zornitza Stark Marked gene: NRAS as ready
Mendeliome v0.4347 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Mendeliome v0.4347 NRAS Zornitza Stark Phenotypes for gene: NRAS were changed from to Noonan syndrome 6, MIM# 613224
Mendeliome v0.4346 NRAS Zornitza Stark Publications for gene: NRAS were set to
Mendeliome v0.4345 NRAS Zornitza Stark Mode of pathogenicity for gene: NRAS 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 v0.4344 NRAS Zornitza Stark Mode of inheritance for gene: NRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4343 NRAS Zornitza Stark reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19966803, 26467218, 28594414; Phenotypes: Noonan syndrome 6, MIM# 613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.63 NRAS Zornitza Stark Marked gene: NRAS as ready
Rasopathy v0.63 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Rasopathy v0.63 NRAS Zornitza Stark Phenotypes for gene: NRAS were changed from to Noonan syndrome 6, MIM# 613224
Rasopathy v0.62 NRAS Zornitza Stark Publications for gene: NRAS were set to
Rasopathy v0.61 NRAS Zornitza Stark Mode of pathogenicity for gene: NRAS 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
Rasopathy v0.60 NRAS Zornitza Stark Mode of inheritance for gene: NRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.59 NRAS Zornitza Stark reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19966803, 26467218, 28594414; Phenotypes: Noonan syndrome 6, MIM# 613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.59 NF1 Zornitza Stark Marked gene: NF1 as ready
Rasopathy v0.59 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Rasopathy v0.59 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, MIM# 162200; Neurofibromatosis-Noonan syndrome, MIM# 601321
Rasopathy v0.58 NF1 Zornitza Stark Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.57 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, Neurofibromatosis-Noonan syndrome, MIM# 601321; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4343 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Mendeliome v0.4343 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Mendeliome v0.4343 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, MIM# 615280
Mendeliome v0.4342 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to
Mendeliome v0.4341 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 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 v0.4340 MAP2K2 Zornitza Stark Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4339 MAP2K2 Zornitza Stark reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20358587, 16439621, 18042262; Phenotypes: Cardiofaciocutaneous syndrome 4, MIM# 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.57 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Rasopathy v0.57 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Rasopathy v0.57 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, MIM# 615280
Rasopathy v0.56 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to
Rasopathy v0.55 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 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
Rasopathy v0.54 MAP2K2 Zornitza Stark Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.53 MAP2K2 Zornitza Stark reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20358587, 16439621, 18042262; Phenotypes: Cardiofaciocutaneous syndrome 4, MIM# 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4339 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Mendeliome v0.4339 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Mendeliome v0.4339 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279
Mendeliome v0.4338 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to
Mendeliome v0.4337 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 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 v0.4336 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4335 MAP2K1 Zornitza Stark reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16439621, 17551924, 18042262, 20301365; Phenotypes: Cardiofaciocutaneous syndrome 3, MIM# 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.53 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Rasopathy v0.53 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Rasopathy v0.53 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279
Rasopathy v0.52 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to
Rasopathy v0.51 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 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
Rasopathy v0.50 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.49 MAP2K1 Zornitza Stark reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16439621, 17551924, 18042262, 20301365; Phenotypes: Cardiofaciocutaneous syndrome 3, MIM# 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.9 KRAS Zornitza Stark Marked gene: KRAS as ready
Cardiomyopathy_Paediatric v0.9 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.9 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 2 615278; Cardiofaciocutaneous syndrome 2; CFC syndrome; Noonan syndrome; Noonan syndrome 3 609942 to Cardiofaciocutaneous syndrome 2, MIM# 615278; Noonan syndrome 3, MIM# 609942
Rasopathy v0.49 KRAS Zornitza Stark Marked gene: KRAS as ready
Rasopathy v0.49 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Rasopathy v0.49 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from to Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278
Rasopathy v0.48 KRAS Zornitza Stark Publications for gene: KRAS were set to 16474404; 16474405; 16773572; 17056636
Rasopathy v0.47 KRAS Zornitza Stark edited their review of gene: KRAS: Changed publications: 21797849, 16474404, 16474405, 16773572, 17056636
Rasopathy v0.47 KRAS Zornitza Stark edited their review of gene: KRAS: Changed publications: 21797849
Rasopathy v0.47 KRAS Zornitza Stark Publications for gene: KRAS were set to
Rasopathy v0.46 KRAS Zornitza Stark Mode of pathogenicity for gene: KRAS 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
Rasopathy v0.45 KRAS Zornitza Stark Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.44 KRAS Zornitza Stark reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 16474404, 16474405, 16773572, 17056636; Phenotypes: Noonan syndrome 3, MIM# 609942, Cardiofaciocutaneous syndrome 2, MIM# 615278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2987 HRAS Zornitza Stark Marked gene: HRAS as ready
Intellectual disability syndromic and non-syndromic v0.2987 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2987 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Intellectual disability syndromic and non-syndromic v0.2986 HRAS Zornitza Stark Publications for gene: HRAS were set to
Intellectual disability syndromic and non-syndromic v0.2985 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS 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 v0.2984 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2983 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16329078, 16372351, 16443854; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4335 HRAS Zornitza Stark Marked gene: HRAS as ready
Mendeliome v0.4335 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Mendeliome v0.4335 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Mendeliome v0.4334 HRAS Zornitza Stark Publications for gene: HRAS were set to
Mendeliome v0.4333 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS 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 v0.4332 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4331 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16329078, 16372351, 16443854; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.44 HRAS Zornitza Stark Marked gene: HRAS as ready
Rasopathy v0.44 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Rasopathy v0.44 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Rasopathy v0.43 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS 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
Rasopathy v0.42 HRAS Zornitza Stark Publications for gene: HRAS were set to
Rasopathy v0.41 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.40 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16329078, 16372351, 16443854; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.193 CBL Zornitza Stark Marked gene: CBL as ready
Hydrops fetalis v0.193 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Hydrops fetalis v0.193 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Hydrops fetalis v0.192 CBL Zornitza Stark Publications for gene: CBL were set to
Hydrops fetalis v0.191 CBL Zornitza Stark Mode of pathogenicity for gene: CBL 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
Hydrops fetalis v0.190 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.189 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.87 CBL Zornitza Stark Marked gene: CBL as ready
Cancer Predisposition_Paediatric v0.87 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.87 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Cancer Predisposition_Paediatric v0.86 CBL Zornitza Stark Publications for gene: CBL were set to
Cancer Predisposition_Paediatric v0.85 CBL Zornitza Stark Mode of pathogenicity for gene: CBL 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
Cancer Predisposition_Paediatric v0.84 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.83 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4331 CBL Zornitza Stark Marked gene: CBL as ready
Mendeliome v0.4331 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Mendeliome v0.4331 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Mendeliome v0.4330 CBL Zornitza Stark Publications for gene: CBL were set to
Mendeliome v0.4329 CBL Zornitza Stark Mode of pathogenicity for gene: CBL 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 v0.4328 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4327 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.40 CBL Zornitza Stark Marked gene: CBL as ready
Rasopathy v0.40 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Rasopathy v0.40 CBL Zornitza Stark Phenotypes for gene: CBL were changed from to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Rasopathy v0.39 CBL Zornitza Stark Publications for gene: CBL were set to
Rasopathy v0.38 CBL Zornitza Stark Mode of pathogenicity for gene: CBL 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
Rasopathy v0.37 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.36 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.36 BRAF Zornitza Stark edited their review of gene: BRAF: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.8 BRAF Zornitza Stark Marked gene: BRAF as ready
Cardiomyopathy_Paediatric v0.8 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.8 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707 to Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM
Rasopathy v0.36 BRAF Zornitza Stark Marked gene: BRAF as ready
Rasopathy v0.36 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Rasopathy v0.36 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Rasopathy v0.35 BRAF Zornitza Stark Publications for gene: BRAF were set to
Rasopathy v0.34 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rasopathy v0.33 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206169, 18042262; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4327 CSNK1D Zornitza Stark Marked gene: CSNK1D as ready
Mendeliome v0.4327 CSNK1D Zornitza Stark Gene: csnk1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4327 CSNK1D Zornitza Stark Phenotypes for gene: CSNK1D were changed from to Advanced sleep-phase syndrome, familial, 2, MIM# 615224
Mendeliome v0.4326 CSNK1D Zornitza Stark Publications for gene: CSNK1D were set to
Mendeliome v0.4325 CSNK1D Zornitza Stark Mode of inheritance for gene: CSNK1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4324 CSNK1D Zornitza Stark Classified gene: CSNK1D as Amber List (moderate evidence)
Mendeliome v0.4324 CSNK1D Zornitza Stark Gene: csnk1d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4323 CSNK1D Zornitza Stark reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 15800623, 23636092; Phenotypes: Advanced sleep-phase syndrome, familial, 2, MIM# 615224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4323 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Mendeliome v0.4323 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Mendeliome v0.4323 CACNA1E Zornitza Stark Phenotypes for gene: CACNA1E were changed from to Epileptic encephalopathy, early infantile, 69, MIM#618285
Mendeliome v0.4322 CACNA1E Zornitza Stark Publications for gene: CACNA1E were set to
Mendeliome v0.4321 CACNA1E Zornitza Stark Mode of inheritance for gene: CACNA1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4320 CACNA1E Zornitza Stark changed review comment from: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability.; to: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability. Additional common features included spastic quadriplegia, hyperreflexia, hyperkinetic movements, dystonia, myoclonus, clonus, poor or absent eye contact, nystagmus, cortical visual impairment, and loss of head control. Thirteen patients had congenital contractures and 13 had macrocephaly.
Paroxysmal Dyskinesia v0.76 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Paroxysmal Dyskinesia v0.76 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.76 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Hypokalemic periodic paralysis, type 1, MIM# 170400
Paroxysmal Dyskinesia v0.75 CACNA1S Zornitza Stark Publications for gene: CACNA1S were set to
Paroxysmal Dyskinesia v0.74 CACNA1S Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.73 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.140 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Dystonia and Chorea v0.140 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Dystonia and Chorea v0.140 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia to Wilson disease, MIM# 277900; Dystonia
Dystonia and Chorea v0.139 ATP7B Zornitza Stark Publications for gene: ATP7B were set to
Dystonia and Chorea v0.138 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32662046; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.73 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Paroxysmal Dyskinesia v0.73 ATP7B Zornitza Stark Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.73 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Paroxysmal Dyskinesia v0.72 ATP7B Zornitza Stark Publications for gene: ATP7B were set to
Paroxysmal Dyskinesia v0.71 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.70 ATP7B Zornitza Stark Classified gene: ATP7B as Red List (low evidence)
Paroxysmal Dyskinesia v0.70 ATP7B Zornitza Stark Gene: atp7b has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.69 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: 32662046; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4320 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Mendeliome v0.4320 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Mendeliome v0.4320 ATAD1 Zornitza Stark Phenotypes for gene: ATAD1 were changed from to Hyperekplexia 4, MIM#618011
Mendeliome v0.4319 ATAD1 Zornitza Stark Publications for gene: ATAD1 were set to
Mendeliome v0.4318 ATAD1 Zornitza Stark Mode of inheritance for gene: ATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4317 ATAD1 Zornitza Stark changed review comment from: Severe progressive neurological disorder, severe/profound intellectual disability is a feature; to: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature.
Mendeliome v0.4317 ATAD1 Zornitza Stark edited their review of gene: ATAD1: Changed publications: 28180185, 29390050, 29659736
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Classified gene: ATAD1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.69 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.68 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ATAD1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Mendeliome v0.4317 Zornitza Stark removed gene:ADAT1 from the panel
Paroxysmal Dyskinesia v0.67 Zornitza Stark removed gene:ADAT1 from the panel
Genetic Epilepsy v0.854 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Genetic Epilepsy v0.854 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.854 ATAD1 Zornitza Stark Classified gene: ATAD1 as Green List (high evidence)
Genetic Epilepsy v0.854 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.853 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ATAD1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Mendeliome v0.4316 ADAT1 Zornitza Stark Marked gene: ADAT1 as ready
Mendeliome v0.4316 ADAT1 Zornitza Stark Gene: adat1 has been classified as Green List (High Evidence).
Mendeliome v0.4316 ADAT1 Zornitza Stark Classified gene: ADAT1 as Green List (high evidence)
Mendeliome v0.4316 ADAT1 Zornitza Stark Gene: adat1 has been classified as Green List (High Evidence).
Mendeliome v0.4315 ADAT1 Zornitza Stark gene: ADAT1 was added
gene: ADAT1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ADAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ADAT1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ADAT1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Marked gene: ADAT1 as ready
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Gene: adat1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Classified gene: ADAT1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.66 ADAT1 Zornitza Stark Gene: adat1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.65 ADAT1 Zornitza Stark gene: ADAT1 was added
gene: ADAT1 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: ADAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ADAT1 were set to Hyperekplexia 4, MIM#618011
Review for gene: ADAT1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures.
Sources: Expert list
Ocular and Oculocutaneous Albinism v0.9 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Ocular and Oculocutaneous Albinism v0.9 OCA2 Zornitza Stark Gene: oca2 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.9 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Ocular and Oculocutaneous Albinism v0.8 OCA2 Zornitza Stark Publications for gene: OCA2 were set to
Ocular and Oculocutaneous Albinism v0.7 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.6 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32741191, 20301410; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4314 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from [Skin/hair/eye pigmentation 1, blond/brown hair] 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220; Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous to Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous
Mendeliome v0.4313 OCA2 Zornitza Stark Publications for gene: OCA2 were set to 32741191; 24518832
Mendeliome v0.4312 OCA2 Zornitza Stark Tag SV/CNV tag was added to gene: OCA2.
Mendeliome v0.4312 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Mendeliome v0.4312 OCA2 Zornitza Stark Gene: oca2 has been classified as Green List (High Evidence).
Mendeliome v0.4312 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from to [Skin/hair/eye pigmentation 1, blond/brown hair] 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220; Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous
Mendeliome v0.4311 OCA2 Zornitza Stark Publications for gene: OCA2 were set to
Mendeliome v0.4310 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4309 OCA2 Elena Savva changed review comment from: Single variant found causing AD OCA - p.G780S in two families (Lee, 2020) -> GOF suggested

Complete penetrance for oculocutaneous albininism but variable expressivity (PMID: 24518832). No variable expressivity or incomplete penetrance reported in GeneReviews.

Loss of function; to: Single variant found causing AD OCA - p.G780S in two families (Lee, 2020) -> GOF suggested

Complete penetrance for oculocutaneous albininism but variable expressivity (PMID: 24518832). No variable expressivity or incomplete penetrance reported in GeneReviews.

Loss of function

2.7kb deletion is very common in sub-Saharan African populations (GeneReviews)
Mendeliome v0.4309 OCA2 Elena Savva reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32741191, 24518832; Phenotypes: [Skin/hair/eye pigmentation 1, blond/brown hair] 227220, [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220, Albinism, brown oculocutaneous 203200, Albinism, oculocutaneous, type II 203200, autosomal dominant Albinism, oculocutaneous; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital diaphragmatic hernia v0.7 PIGN Zornitza Stark Marked gene: PIGN as ready
Congenital diaphragmatic hernia v0.7 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.7 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080
Congenital diaphragmatic hernia v0.6 PIGN Zornitza Stark Classified gene: PIGN as Green List (high evidence)
Congenital diaphragmatic hernia v0.6 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Congenital diaphragmatic hernia v0.5 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital diaphragmatic hernia v0.5 PIGN Andrew Fennell gene: PIGN was added
gene: PIGN was added to Congenital diaphragmatic hernia. Sources: Literature
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to PMID: 27038415; 24852103
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1
Penetrance for gene: PIGN were set to Complete
Review for gene: PIGN was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.4309 ZSWIM6 Zornitza Stark changed review comment from: MIM #617865 (NEDMAGA): A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X)identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.
MIM#603671 (acromelic frontonasal dysplasia): recurrent missense identified in 6 unrelated families, p.Arg1163Trp; to: MIM #617865 (NEDMAGA): A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X) identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.
MIM#603671 (acromelic frontonasal dysplasia): recurrent missense identified in 6 unrelated families, p.Arg1163Trp
Mendeliome v0.4309 ZSWIM6 Zornitza Stark changed review comment from: MIM #617865 A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X)identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.
MIM#603671: recurrent missense identified in 6 unrelated families, p.Arg1163Trp; to: MIM #617865 (NEDMAGA): A recurrent de novo heterozygous truncating mutation in the ZSWIM6 gene (R913X)identified in 7 unrelated patients. Analysis of patient cells indicated that the mutant transcript escaped nonsense-mediated mRNA decay, and most likely produced a truncated protein, although antibody studies were unable to detect a truncated protein. Possible dominant-negative effect. NB a more proximal nonsense variant was also reported inherited in a family with an unaffected mother: loss of function variants may not cause a phenotype.
MIM#603671 (acromelic frontonasal dysplasia): recurrent missense identified in 6 unrelated families, p.Arg1163Trp
Mendeliome v0.4309 SREBF1 Zornitza Stark Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
Mendeliome v0.4308 SREBF1 Zornitza Stark reviewed gene: SREBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.98 SREBF1 Zornitza Stark Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
Ichthyosis and Porokeratosis v0.97 SREBF1 Zornitza Stark edited their review of gene: SREBF1: Changed phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
Cerebral Palsy v0.30 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Cerebral Palsy v0.30 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Cerebral Palsy v0.30 VPS13D Zornitza Stark Phenotypes for gene: VPS13D were changed from to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Cerebral Palsy v0.29 VPS13D Zornitza Stark Publications for gene: VPS13D were set to
Cerebral Palsy v0.28 VPS13D Zornitza Stark Mode of inheritance for gene: VPS13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.27 VPS13D Zornitza Stark reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29604224, 29518281; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4308 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Mendeliome v0.4308 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Mendeliome v0.4308 VPS13D Zornitza Stark Phenotypes for gene: VPS13D were changed from to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Mendeliome v0.4307 VPS13D Zornitza Stark Publications for gene: VPS13D were set to
Mendeliome v0.4306 VPS13D Zornitza Stark Mode of inheritance for gene: VPS13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.138 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Dystonia and Chorea v0.138 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Dystonia and Chorea v0.138 VPS13D Zornitza Stark Classified gene: VPS13D as Green List (high evidence)
Dystonia and Chorea v0.138 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Dystonia and Chorea v0.137 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29604224; 29518281
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Review for gene: VPS13D was set to GREEN
Added comment: 7 unrelated families reported and a mouse model. Most affected individuals have ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability.
Sources: Expert list
Dystonia and Chorea v0.136 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Dystonia and Chorea v0.136 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.136 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Dystonia and Chorea v0.136 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.135 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Dystonia; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Review for gene: VAMP2 was set to GREEN
Added comment: 5 unrelated patients with heterozygous de novo mutations in VAMP2, presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The abnormal movements included dystonia.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2983 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from Intellectual disability; autism; no OMIM number yet to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2982 VAMP2 Zornitza Stark reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Cortical visual impairment, Seizures, Stereotypic behaviour, Generalized hypotonia, Intellectual disability; Mode of inheritance: None
Genetic Epilepsy v0.852 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Genetic Epilepsy v0.851 VAMP2 Zornitza Stark edited their review of gene: VAMP2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Cortical visual impairment, Seizures, Stereotypic behaviour, Generalized hypotonia, Intellectual disability
Mendeliome v0.4305 VAMP2 Zornitza Stark Phenotypes for gene: VAMP2 were changed from Intellectual disability; Autism to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760; Intellectual disability; Autism
Mendeliome v0.4304 VAMP2 Zornitza Stark edited their review of gene: VAMP2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760, Intellectual disability, Autism
Dystonia and Chorea v0.134 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Dystonia and Chorea v0.134 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.134 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Dystonia and Chorea v0.134 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.133 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP1 were set to 22958904
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, MIM# 108600
Review for gene: VAMP1 was set to GREEN
Added comment: Autosomal dominant neurodegenerative disorder characterised by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Onset is between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs.
Sources: Expert list
Dystonia and Chorea v0.132 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Dystonia and Chorea v0.132 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.132 SURF1 Zornitza Stark Classified gene: SURF1 as Green List (high evidence)
Dystonia and Chorea v0.132 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.131 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SURF1 were set to 19780766
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, MIM# 256000
Review for gene: SURF1 was set to GREEN
Added comment: SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a progressive neurodegenerative disorder of infancy, characterised by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia. Dystonia is part of the phenotype, particularly in those with milder phenotypes/missense variants.
Sources: Expert list
Regression v0.157 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Regression v0.157 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Regression v0.157 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Regression v0.156 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Regression v0.155 SQSTM1 Zornitza Stark Mode of inheritance for gene: SQSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.154 SQSTM1 Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.130 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Myopathy, distal, with rimmed vacuoles 617158 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Dystonia and Chorea v0.129 SQSTM1 Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.38 FARSA Zornitza Stark Marked gene: FARSA as ready
Brain Calcification v0.38 FARSA Zornitza Stark Gene: farsa has been classified as Red List (Low Evidence).
Brain Calcification v0.38 FARSA Zornitza Stark gene: FARSA was added
gene: FARSA was added to Brain Calcification. Sources: Expert list
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSA were set to 31355908
Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Review for gene: FARSA was set to RED
Added comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder.
Sources: Expert list
Mendeliome v0.4304 FARSA Zornitza Stark Marked gene: FARSA as ready
Mendeliome v0.4304 FARSA Zornitza Stark Gene: farsa has been classified as Red List (Low Evidence).
Mendeliome v0.4304 FARSA Zornitza Stark gene: FARSA was added
gene: FARSA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSA were set to 31355908
Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Review for gene: FARSA was set to RED
Added comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder.
Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.13 FARSA Zornitza Stark Marked gene: FARSA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.13 FARSA Zornitza Stark Gene: farsa has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.13 FARSA Zornitza Stark Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2 619013 to Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Pulmonary Fibrosis_Interstitial Lung Disease v0.12 FARSA Zornitza Stark gene: FARSA was added
gene: FARSA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSA were set to 31355908
Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2 619013
Review for gene: FARSA was set to RED
Added comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder.
Sources: Literature
Dystonia and Chorea v0.129 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Dystonia and Chorea v0.129 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.129 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to
Dystonia and Chorea v0.128 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463, 24411498; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4303 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Mendeliome v0.4303 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Mendeliome v0.4303 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656
Mendeliome v0.4302 SLC1A3 Zornitza Stark Publications for gene: SLC1A3 were set to
Mendeliome v0.4301 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4300 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.64 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Paroxysmal Dyskinesia v0.64 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.64 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656
Paroxysmal Dyskinesia v0.63 SLC1A3 Zornitza Stark Publications for gene: SLC1A3 were set to
Paroxysmal Dyskinesia v0.62 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.61 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4300 ANGPT2 Zornitza Stark Marked gene: ANGPT2 as ready
Mendeliome v0.4300 ANGPT2 Zornitza Stark Gene: angpt2 has been classified as Green List (High Evidence).
Mendeliome v0.4300 ANGPT2 Zornitza Stark Classified gene: ANGPT2 as Green List (high evidence)
Mendeliome v0.4300 ANGPT2 Zornitza Stark Gene: angpt2 has been classified as Green List (High Evidence).
Mendeliome v0.4299 ANGPT2 Zornitza Stark gene: ANGPT2 was added
gene: ANGPT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANGPT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013
Phenotypes for gene: ANGPT2 were set to Primary lymphoedema
Review for gene: ANGPT2 was set to GREEN
Added comment: Five unrelated individuals reported with primary lymphedema and variants in this gene, together with functional data.
Sources: Literature
Mendeliome v0.4298 UBR4 Zornitza Stark changed review comment from: Episodic ataxia reported in two families, but another molecular diagnosis present in the second, so suggested as a modifier. Only one individual reported with childhood-onset progressive neurological disorder as part of a large paper proposing multiple candidate genes.; to: Episodic ataxia reported in four families, but another molecular diagnosis present in the some, so suggested as a modifier. Variants are missense, with no supportive segregation or functional data, some are present at a low level in population databases. Only one individual reported with childhood-onset progressive neurological disorder as part of a large paper proposing multiple candidate genes.
Paroxysmal Dyskinesia v0.61 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Paroxysmal Dyskinesia v0.61 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.61 UBR4 Zornitza Stark Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094
Paroxysmal Dyskinesia v0.60 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.59 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Paroxysmal Dyskinesia v0.59 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.58 UBR4 Zornitza Stark changed review comment from: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases.; to: Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases. Variants in other putative ataxia genes present in some of the individuals.
Paroxysmal Dyskinesia v0.58 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 23982692, 29062094; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.58 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Paroxysmal Dyskinesia v0.58 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.58 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss to Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105; Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss
Paroxysmal Dyskinesia v0.57 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.56 TBC1D24 Zornitza Stark reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 31257402; Phenotypes: Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.56 TBC1D24 Zornitza Stark Classified gene: TBC1D24 as Green List (high evidence)
Paroxysmal Dyskinesia v0.56 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.55 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Paroxysmal Dyskinesia v0.55 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.55 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy. to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.
Paroxysmal Dyskinesia v0.54 HIBCH Zornitza Stark Classified gene: HIBCH as Green List (high evidence)
Paroxysmal Dyskinesia v0.54 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.53 HIBCH Zornitza Stark reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.57 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Early-onset Parkinson disease v0.57 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.57 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Early-onset Parkinson disease v0.56 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to
Early-onset Parkinson disease v0.55 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.54 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.154 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Regression v0.154 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Regression v0.154 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Regression v0.153 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to
Regression v0.152 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.152 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.151 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Regression v0.151 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Regression v0.150 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4298 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Mendeliome v0.4298 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Green List (High Evidence).
Mendeliome v0.4298 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Mendeliome v0.4297 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to
Mendeliome v0.4296 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4295 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.37 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Brain Calcification v0.37 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Green List (High Evidence).
Brain Calcification v0.37 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Brain Calcification v0.36 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to
Brain Calcification v0.35 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v0.34 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.53 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Paroxysmal Dyskinesia v0.53 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.53 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification to Basal ganglia calcification, idiopathic, 1, MIM# 213600; Paroxysmal kinesigenic dyskinesia
Paroxysmal Dyskinesia v0.52 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to PMID 24411498
Paroxysmal Dyskinesia v0.51 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Paroxysmal Dyskinesia v0.51 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Paroxysmal Dyskinesia v0.50 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: 22327515, 23334463, 24411498; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v0.116 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Hereditary Spastic Paraplegia v0.116 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.116 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Hereditary Spastic Paraplegia v0.115 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Leukodystrophy v0.174 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Leukodystrophy v0.174 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Leukodystrophy v0.174 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease to Allan-Herndon-Dudley syndrome, MIM# 300523; Hypomyelination
Leukodystrophy v0.173 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Leukodystrophy v0.172 SLC16A2 Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Leukodystrophy v0.171 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia and Chorea v0.128 SLC16A2 Zornitza Stark changed review comment from: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. Paroxysmal dystonic dyskinesia triggered by passive movements, excitement, crying reported.
Sources: Expert Review; to: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications. Paroxysmal dystonic dyskinesia triggered by passive movements, excitement, crying is reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2982 SLC16A2 Zornitza Stark changed review comment from: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability.; to: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications.
Genetic Epilepsy v0.851 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Genetic Epilepsy v0.851 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.851 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, MIM# 300523
Genetic Epilepsy v0.850 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Genetic Epilepsy v0.849 SLC16A2 Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.848 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4295 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Mendeliome v0.4295 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Mendeliome v0.4295 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, MIM# 300523
Mendeliome v0.4294 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Mendeliome v0.4293 SLC16A2 Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4292 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia and Chorea v0.128 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Dystonia and Chorea v0.128 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.128 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Green List (high evidence)
Dystonia and Chorea v0.128 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.127 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 15980113; 31410843; 20301789
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome, MIM# 300523
Review for gene: SLC16A2 was set to GREEN
Added comment: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. Paroxysmal dystonic dyskinesia triggered by passive movements, excitement, crying reported.
Sources: Expert Review
Craniosynostosis v0.136 ADAMTSL4 Zornitza Stark Marked gene: ADAMTSL4 as ready
Craniosynostosis v0.136 ADAMTSL4 Zornitza Stark Gene: adamtsl4 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.35 Zornitza Stark removed gene:TRIP13 from the panel
Mendeliome v0.4292 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Mendeliome v0.4292 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Oocyte maturation defect 9, MIM# 619011
Mendeliome v0.4291 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Mendeliome v0.4290 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4289 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: None; Publications: 28553959, 32473092; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598, Oocyte maturation defect 9, MIM# 619011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.848 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Cancer Predisposition_Paediatric v0.83 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Cancer Predisposition_Paediatric v0.83 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.83 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.82 TRIP13 Zornitza Stark changed review comment from: Predisposition to Wilms tumour, six unrelated individuals reported.; to: Predisposition to Wilms tumour, six unrelated individuals reported. Note 5/6 families had the same variant, suggestive of founder effect.
Cancer Predisposition_Paediatric v0.82 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: AMBER
Craniosynostosis v0.136 ADAMTSL4 Bryony Thompson gene: ADAMTSL4 was added
gene: ADAMTSL4 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL4 were set to 22871183; 20702823
Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae MIM#225200
Review for gene: ADAMTSL4 was set to RED
Added comment: Two cases with craniosynostosis and the same 20 bp deletion have been repeated, but cases with the same variant in the same family have been reported with ectopia lentis only.
Sources: Literature
Mendeliome v0.4289 HSP90B2P Bryony Thompson changed review comment from: Cannot find any link to any disease at all. This is a pseudogene. It may have been included because its previous gene symbol is TRAP1; to: Cannot find any link to any disease at all. There is no OMIM entry for this pseudogene. It may have been included because its previous gene symbol is TRAP1.
Mendeliome v0.4289 HSP90B2P Bryony Thompson Marked gene: HSP90B2P as ready
Mendeliome v0.4289 HSP90B2P Bryony Thompson Gene: hsp90b2p has been classified as Red List (Low Evidence).
Mendeliome v0.4289 HSP90B2P Bryony Thompson Classified gene: HSP90B2P as Red List (low evidence)
Mendeliome v0.4289 HSP90B2P Bryony Thompson Gene: hsp90b2p has been classified as Red List (Low Evidence).
Mendeliome v0.4288 HSP90B2P Bryony Thompson reviewed gene: HSP90B2P: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Polymicrogyria and Schizencephaly v0.146 NEDD4L Zornitza Stark Classified gene: NEDD4L as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.146 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.145 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Polymicrogyria and Schizencephaly v0.145 NEDD4L Zornitza Stark Gene: nedd4l has been removed from the panel.
Polymicrogyria and Schizencephaly v0.145 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia; polymicrogyria; syndactyly to Periventricular nodular heterotopia 7, MIM# 617201; polymicrogyria; syndactyly
Polymicrogyria and Schizencephaly v0.144 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Polymicrogyria and Schizencephaly v0.144 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.144 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from 614483 to Brain small vessel disease 2, MIM#614483
Polymicrogyria and Schizencephaly v0.143 COL4A2 Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.143 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2982 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Intellectual disability syndromic and non-syndromic v0.2982 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2982 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, MIM# 300523
Intellectual disability syndromic and non-syndromic v0.2981 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Intellectual disability syndromic and non-syndromic v0.2980 SLC16A2 Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2979 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.50 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Paroxysmal Dyskinesia v0.50 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.50 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia to Allan-Herndon-Dudley syndrome, MIM# 300523; paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia
Paroxysmal Dyskinesia v0.49 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to PMID 20301789
Paroxysmal Dyskinesia v0.48 SLC16A2 Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from Other to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.47 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Green List (high evidence)
Paroxysmal Dyskinesia v0.47 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.46 SLC16A2 Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal Dyskinesia v0.46 PDGFB Zornitza Stark Marked gene: PDGFB as ready
Paroxysmal Dyskinesia v0.46 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.46 PDGFB Zornitza Stark Phenotypes for gene: PDGFB were changed from Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification to Basal ganglia calcification, idiopathic, 5, MIM# 615483; Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification
Paroxysmal Dyskinesia v0.45 PDGFB Zornitza Stark Publications for gene: PDGFB were set to PMID 28556368; PMID 32443735
Paroxysmal Dyskinesia v0.44 PDGFB Zornitza Stark Mode of inheritance for gene: PDGFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.43 PDGFB Zornitza Stark Classified gene: PDGFB as Green List (high evidence)
Paroxysmal Dyskinesia v0.43 PDGFB Zornitza Stark Gene: pdgfb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.42 PDGFB Zornitza Stark reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913003; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM# 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.142 COL4A2 Chloe Stutterd gene: COL4A2 was added
gene: COL4A2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A2 were set to 30315939
Phenotypes for gene: COL4A2 were set to 614483
Review for gene: COL4A2 was set to AMBER
Added comment: Two unrelated individuals reported with PMG.
Third unrelated family identified in MCRI study not yet published
Sources: Literature
Polymicrogyria and Schizencephaly v0.142 NEDD4L Chloe Stutterd gene: NEDD4L was added
gene: NEDD4L was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEDD4L were set to 27694961; 28515470; 30393983
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia; polymicrogyria; syndactyly
Review for gene: NEDD4L was set to GREEN
Added comment: Sources: Literature
Dystonia and Chorea v0.126 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Dystonia and Chorea v0.126 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.126 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia to 3-methylglutaconic aciduria, type III, MIM# 258501; developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia
Dystonia and Chorea v0.125 OPA3 Zornitza Stark Publications for gene: OPA3 were set to PMID: 20301646
Dystonia and Chorea v0.124 OPA3 Zornitza Stark Classified gene: OPA3 as Green List (high evidence)
Dystonia and Chorea v0.124 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.123 OPA3 Zornitza Stark reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7510656, 2494568, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III, MIM# 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.387 DMXL2 Zornitza Stark Phenotypes for gene: DMXL2 were changed from Autosomal dominant hearing loss; autosomal recessive EE with deafness to Autosomal dominant hearing loss; Epileptic encephalopathy, early infantile, 81, MIM#618663, includes deafness
Mendeliome v0.4288 NOBOX Zornitza Stark Marked gene: NOBOX as ready
Mendeliome v0.4288 NOBOX Zornitza Stark Gene: nobox has been classified as Green List (High Evidence).
Mendeliome v0.4288 NOBOX Zornitza Stark Phenotypes for gene: NOBOX were changed from to Premature ovarian failure 5,MIM#611548
Mendeliome v0.4287 NOBOX Zornitza Stark Publications for gene: NOBOX were set to
Mendeliome v0.4286 NOBOX Zornitza Stark Mode of inheritance for gene: NOBOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4285 NOBOX Zornitza Stark reviewed gene: NOBOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 27836978, 21837770, 25514101, 17701902, 27798098, 29067606; Phenotypes: Premature ovarian failure 5,MIM#611548; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.34 NOBOX Zornitza Stark Marked gene: NOBOX as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.34 NOBOX Zornitza Stark Gene: nobox has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.34 NOBOX Zornitza Stark Publications for gene: NOBOX were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.33 NOBOX Zornitza Stark Mode of inheritance for gene: NOBOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.42 UBR4 Eunice Chan gene: UBR4 was added
gene: UBR4 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: UBR4 was set to Unknown
Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094
Phenotypes for gene: UBR4 were set to early onset episodic ataxia; nystagmus; myokymia; tremor
Paroxysmal Dyskinesia v0.42 TBC1D24 Eunice Chan gene: TBC1D24 was added
gene: TBC1D24 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: TBC1D24 was set to Unknown
Publications for gene: TBC1D24 were set to PMID 31257402; PMID 31226716; PMID 25719194
Phenotypes for gene: TBC1D24 were set to Episodic dystonia (Exercise induced or without clear trigger); epilepsy; myoclonus; hearing loss
Added comment: Main phenotype with epilepsy and seizures.
Other phenotypes include paroxysmal exercise induced dyskinesia, episodic dystonia, DOORS, non-syndromic hearing loss, myoclonus
Sources: Expert list
Paroxysmal Dyskinesia v0.42 HIBCH Eunice Chan gene: HIBCH was added
gene: HIBCH was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to PMID 31679561
Phenotypes for gene: HIBCH were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features; mitochondrial disorder (Leigh syndrome); neurodevelopmental disability; epilepsy.
Added comment: OMIM 610690
If mild phenotype, can present with PED, hyperCKaemia, hyperammoniaemia and pallidal hyperintensities on MRI
Sources: Expert list
Paroxysmal Dyskinesia v0.42 SLC20A2 Eunice Chan gene: SLC20A2 was added
gene: SLC20A2 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC20A2 were set to PMID 24411498
Phenotypes for gene: SLC20A2 were set to Paroxysmal kinesigenic dyskinesia; Basal ganglia calcification
Added comment: Case report of 1 family
Sources: Expert list
Paroxysmal Dyskinesia v0.42 SLC16A2 Eunice Chan gene: SLC16A2 was added
gene: SLC16A2 was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: SLC16A2 was set to Other
Publications for gene: SLC16A2 were set to PMID 20301789
Phenotypes for gene: SLC16A2 were set to paroxysmal dyskinesia (passive movement trigger); neurodevelopmental disability, hypotonia
Added comment: X-linked inheritance
Allan-Herndon-Dudley Syndrome
paroxysmal dystonic dyskinesia triggered by poassive movements, excitement, crying
High fT3 also characteristic
Please also include on dystonia-Complex panel
Sources: Expert list
Paroxysmal Dyskinesia v0.42 PDGFB Eunice Chan reviewed gene: PDGFB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal Dyskinesia v0.42 PDGFB Eunice Chan gene: PDGFB was added
gene: PDGFB was added to Paroxysmal Dyskinesia. Sources: Expert list
Mode of inheritance for gene: PDGFB was set to Unknown
Publications for gene: PDGFB were set to PMID 28556368; PMID 32443735
Phenotypes for gene: PDGFB were set to Paroxysmal nonkinesigenic dyskinesia; paroxysmal kinesigenic dyskinesia; Brain calcification
Dystonia and Chorea v0.123 OPA3 Eunice Chan gene: OPA3 was added
gene: OPA3 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to PMID: 20301646
Phenotypes for gene: OPA3 were set to developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia
Added comment: Costeff syndrome, most patients are Iraqi-Jewish ancestry
Sources: Expert list
Deafness_IsolatedAndComplex v0.386 DMXL2 Chern Lim reviewed gene: DMXL2: Rating: ; Mode of pathogenicity: None; Publications: 30732576, 27657680; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM#618663, Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dystonia and Chorea v0.123 SETX Zornitza Stark Marked gene: SETX as ready
Dystonia and Chorea v0.123 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Dystonia and Chorea v0.123 SETX Zornitza Stark Classified gene: SETX as Green List (high evidence)
Dystonia and Chorea v0.123 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Dystonia and Chorea v0.122 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SETX were set to 19696032
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
Review for gene: SETX was set to GREEN
Added comment: Dystonia was present in around 13% in a cohort of 90 affected individuals.
Sources: Expert list
Dystonia and Chorea v0.121 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Dystonia and Chorea v0.121 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.121 PSEN1 Zornitza Stark Phenotypes for gene: PSEN1 were changed from Frontotemporal dementia; Dystonia to Frontotemporal dementia, MIM# 600274; Dystonia
Dystonia and Chorea v0.120 PSEN1 Zornitza Stark Classified gene: PSEN1 as Green List (high evidence)
Dystonia and Chorea v0.120 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.119 PSEN1 Zornitza Stark changed review comment from: Variants in this gene are typically associated with Alzheimer's disease and other dementias. One case report of a primary presentation with Parkinsonism-dystonia, later complicated by dementia.; to: Variants in this gene are typically associated with Alzheimer's disease and other dementias but there are reports of complex movement disorders preceding or as part of dementia presentations.
Dystonia and Chorea v0.119 PSEN1 Zornitza Stark edited their review of gene: PSEN1: Changed rating: GREEN; Changed publications: 12810495, 15159497, 29316780, 28664294
Dystonia and Chorea v0.119 PSEN1 Zornitza Stark Classified gene: PSEN1 as Red List (low evidence)
Dystonia and Chorea v0.119 PSEN1 Zornitza Stark Gene: psen1 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.118 PSEN1 Zornitza Stark reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: None; Publications: 28664294; Phenotypes: Dementia, frontotemporal, MIM# 600274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.118 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Dystonia and Chorea v0.118 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.118 POLR3A Zornitza Stark Classified gene: POLR3A as Green List (high evidence)
Dystonia and Chorea v0.118 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.117 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 32600288; 32373668; 31940116; 31932101; 29618326
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Striatal abnormalities; Dystonia
Review for gene: POLR3A was set to GREEN
Added comment: Multiple individuals reported where dystonia is part of the phenotype. Some of these have had hypomyelinating leukodystrophy, whereas others have had very prominent striatal abnormalities on MRI, in the absence of white matter changes. It is unclear whether this represents a continuum or a separate disorder.
Sources: Expert list
Dystonia and Chorea v0.116 PNKP Zornitza Stark Marked gene: PNKP as ready
Dystonia and Chorea v0.116 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.116 PNKP Zornitza Stark Classified gene: PNKP as Green List (high evidence)
Dystonia and Chorea v0.116 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.115 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 28552035; 25728773
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM# 616267
Review for gene: PNKP was set to GREEN
Added comment: Dystonia is part of this complex neurological phenotype, which also includes ataxia, oculomotor apraxia and peripheral neuropathy.
Sources: Expert list
Dystonia and Chorea v0.114 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Dystonia and Chorea v0.114 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.114 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from Dystonia; Basal ganglia calcification, idiopathic, 4 615007 to Basal ganglia calcification, idiopathic, 4, MIM# 615007
Dystonia and Chorea v0.113 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Dystonia and Chorea v0.112 PDGFRB Zornitza Stark Classified gene: PDGFRB as Red List (low evidence)
Dystonia and Chorea v0.112 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.111 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: RED; Mode of pathogenicity: None; Publications: 24518837; Phenotypes: Basal ganglia calcification, idiopathic, MIM#4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4285 Zornitza Stark removed gene:DNAJC7 from the panel
Motor Neurone Disease v0.54 DNAJC7 Zornitza Stark reviewed gene: DNAJC7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.35 DNAJC7 Zornitza Stark Marked gene: DNAJC7 as ready
Incidentalome v0.35 DNAJC7 Zornitza Stark Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.35 DNAJC7 Zornitza Stark Classified gene: DNAJC7 as Amber List (moderate evidence)
Incidentalome v0.35 DNAJC7 Zornitza Stark Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.34 DNAJC7 Zornitza Stark gene: DNAJC7 was added
gene: DNAJC7 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC7 were set to 31768050
Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis
Review for gene: DNAJC7 was set to AMBER
Added comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. No segregation or functional data. A small number of individuals with LOF variants are present in gnomad albeit less than expected. Given these are cohort studies, and an adult-onset condition, potentially of variable penetrance, we have taken a cautious approach and rated Amber for now.
Sources: Literature
Mendeliome v0.4284 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency
Mendeliome v0.4283 TET2 Zornitza Stark Mode of inheritance for gene: TET2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4282 TET2 Zornitza Stark Classified gene: TET2 as Green List (high evidence)
Mendeliome v0.4282 TET2 Zornitza Stark Gene: tet2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 NOBOX Ee Ming Wong edited their review of gene: NOBOX: Changed publications: PMIDs: 27836978, 21837770, 25514101, 17701902, 27798098, 29067606; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 NOBOX Ee Ming Wong changed review comment from: - Missense and PTC variants have been identified in > 3 unrelated women diagnosed with POI from different studies
- The vast majority of variants are heterozygous, with only one homozygous variant reported in 1 individual with primary amenorrhea and serum FSH level significantly exceeding the threshold value (PMID: 27836978)
- Loss of Function has been clearly demonstrated, while dominant negative effect has also been suggested although there is currently limited evidence (PMID: 17701902)
- Individuals carrying the same variant can have heterogeneous clinical presentations; to: - Missense and PTC variants have been identified in > 3 unrelated women diagnosed with POI from different studies
- The vast majority of variants are heterozygous, with limited reports of homozygous variants (PMID: 27836978; 29067606)
- Loss of Function has been clearly demonstrated, while dominant negative effect has also been suggested although there is currently limited evidence (PMID: 17701902)
- Individuals carrying the same variant can have heterogeneous clinical presentations
Intellectual disability syndromic and non-syndromic v0.2979 HECW2 Zornitza Stark Marked gene: HECW2 as ready
Intellectual disability syndromic and non-syndromic v0.2979 HECW2 Zornitza Stark Gene: hecw2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2979 HECW2 Zornitza Stark Phenotypes for gene: HECW2 were changed from to Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268)
Intellectual disability syndromic and non-syndromic v0.2978 HECW2 Zornitza Stark Publications for gene: HECW2 were set to
Intellectual disability syndromic and non-syndromic v0.2977 HECW2 Zornitza Stark Mode of inheritance for gene: HECW2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 NOBOX Ee Ming Wong reviewed gene: NOBOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 27836978, 21837770, 25514101, 17701902, 27798098; Phenotypes: Premature ovarian failure 5, 611548, AD (more commonly referred to as Premature ovarian insufficiency (POI) in the literature); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Marked gene: NEK1 as ready
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Gene: nek1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Classified gene: NEK1 as Green List (high evidence)
Motor Neurone Disease v0.54 NEK1 Bryony Thompson Gene: nek1 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.53 NEK1 Bryony Thompson gene: NEK1 was added
gene: NEK1 was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEK1 were set to 31768050; 26945885; 27455347; 29929116
Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892
Review for gene: NEK1 was set to GREEN
Added comment: Exome-wide significant burden of heterozygous loss-of-function identified in ALS case-control studies that is replicated in both familial and simplex cohorts. Segregation of a PTV reported in 2 affected first-degree relatives in a single family. A loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2976 HECW2 Teresa Zhao reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4281 TLR7 Zornitza Stark Marked gene: TLR7 as ready
Mendeliome v0.4281 TLR7 Zornitza Stark Gene: tlr7 has been classified as Green List (High Evidence).
Mendeliome v0.4281 TLR7 Zornitza Stark Phenotypes for gene: TLR7 were changed from to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051
Mendeliome v0.4280 TLR7 Zornitza Stark Publications for gene: TLR7 were set to
Mendeliome v0.4279 TLR7 Zornitza Stark Mode of inheritance for gene: TLR7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Susceptibility to Viral Infections v0.68 TLR7 Zornitza Stark Mode of inheritance for gene: TLR7 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Susceptibility to Viral Infections v0.67 TLR7 Zornitza Stark edited their review of gene: TLR7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.215 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Callosome v0.215 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Callosome v0.215 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Callosome v0.214 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Callosome v0.213 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.212 NR2F1 Zornitza Stark Classified gene: NR2F1 as Red List (low evidence)
Callosome v0.212 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Callosome v0.211 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.211 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Callosome v0.211 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Red List (Low Evidence).
Callosome v0.211 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Callosome v0.210 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Callosome v0.209 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Red List (low evidence)
Callosome v0.209 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Red List (Low Evidence).
Callosome v0.208 EXOSC5 Zornitza Stark reviewed gene: EXOSC5: Rating: RED; Mode of pathogenicity: None; Publications: 32504085, 29302074; Phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Mode of inheritance: None
Ataxia v0.225 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Ataxia v0.225 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Ataxia v0.225 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Green List (high evidence)
Ataxia v0.225 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Ataxia v0.224 EXOSC5 Zornitza Stark gene: EXOSC5 was added
gene: EXOSC5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Review for gene: EXOSC5 was set to GREEN
Added comment: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient. Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively. A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.

- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.150 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Developmental delays, short stature, cerebellar hypoplasia and motor weakness to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Cerebellar and Pontocerebellar Hypoplasia v0.149 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.149 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.148 EXOSC5 Zornitza Stark Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.148 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Added comment: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.
Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.

A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.

- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.; Changed rating: GREEN; Changed publications: 32504085, 29302074; Changed phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4278 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Mendeliome v0.4278 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Mendeliome v0.4278 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Mendeliome v0.4277 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Mendeliome v0.4276 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4275 EXOSC5 Arina Puzriakova changed review comment from: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXCOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.
Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.

A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.

- PMID: 29302074 (2019) - Three sibs with a homozygous EXCOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.; to: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient.
Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively.

A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.

- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.
Mendeliome v0.4275 EXOSC5 Arina Puzriakova reviewed gene: EXOSC5: Rating: ; Mode of pathogenicity: None; Publications: 32504085, 29302074; Phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Classified gene: TMEM173 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.10 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM173 were set to 27613991; 32398023
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934
Review for gene: TMEM173 was set to GREEN
Added comment: Four individuals reported with severe interstitial lung disease in the setting of STING-associated vasculopathy.
Sources: Expert Review
Mendeliome v0.4275 SLC20A1 Zornitza Stark Marked gene: SLC20A1 as ready
Mendeliome v0.4275 SLC20A1 Zornitza Stark Gene: slc20a1 has been classified as Green List (High Evidence).
Mendeliome v0.4275 SLC20A1 Zornitza Stark Phenotypes for gene: SLC20A1 were changed from to Bladder-Exstrophy-Epispadias Complex (BEEC)
Mendeliome v0.4274 SLC20A1 Zornitza Stark Publications for gene: SLC20A1 were set to
Mendeliome v0.4273 SLC20A1 Zornitza Stark Mode of inheritance for gene: SLC20A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4272 SLC20A1 Zornitza Stark reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Marked gene: PNPLA8 as ready
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Gene: pnpla8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.483 PNPLA8 Zornitza Stark Publications for gene: PNPLA8 were set to
Mitochondrial disease v0.482 PNPLA8 Zornitza Stark Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.481 PNPLA8 Zornitza Stark reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681094, 25512002; Phenotypes: Mitochondrial myopathy with lactic acidosis (MIM#251950), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4272 PNPLA8 Zornitza Stark Marked gene: PNPLA8 as ready
Mendeliome v0.4272 PNPLA8 Zornitza Stark Gene: pnpla8 has been classified as Green List (High Evidence).
Mendeliome v0.4272 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mendeliome v0.4271 PNPLA8 Zornitza Stark Publications for gene: PNPLA8 were set to
Mendeliome v0.4270 PNPLA8 Zornitza Stark Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4269 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Mendeliome v0.4269 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Mendeliome v0.4269 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Mendeliome v0.4268 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Mendeliome v0.4267 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.117 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Optic Atrophy v0.117 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Optic Atrophy v0.117 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Optic Atrophy v0.116 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Optic Atrophy v0.115 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.114 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.114 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Autism v0.114 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Autism v0.114 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Mendeliome v0.4266 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2976 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Intellectual disability syndromic and non-syndromic v0.2976 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Autism v0.113 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Autism v0.112 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.111 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2976 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Intellectual disability syndromic and non-syndromic v0.2975 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Intellectual disability syndromic and non-syndromic v0.2974 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2973 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v0.23 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Chromosome Breakage Disorders v0.23 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Mendeliome v0.4266 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Mendeliome v0.4266 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.23 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from to Nijmegen breakage syndrome-like disorder, MIM# 613078
Mendeliome v0.4266 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from to Nijmegen breakage syndrome-like disorder, MIM# 613078
Mendeliome v0.4265 RAD50 Zornitza Stark Publications for gene: RAD50 were set to
Mendeliome v0.4264 RAD50 Zornitza Stark Mode of inheritance for gene: RAD50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.22 RAD50 Zornitza Stark Publications for gene: RAD50 were set to
Mendeliome v0.4263 RAD50 Zornitza Stark reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.21 RAD50 Zornitza Stark Mode of inheritance for gene: RAD50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.20 RAD50 Zornitza Stark reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4263 KMT2D Zornitza Stark Publications for gene: KMT2D were set to 31949313
Mendeliome v0.4262 KMT2D Zornitza Stark edited their review of gene: KMT2D: Added comment: Four further individuals with KMT2D-associated neurodevelopmental syndrome reported. Features include: athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. Two of the four individuals had severe interstitial lung disease.; Changed publications: 31949313, 32083401
Intellectual disability syndromic and non-syndromic v0.2973 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Intellectual disability syndromic and non-syndromic v0.2973 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2973 HSPA9 Zornitza Stark Phenotypes for gene: HSPA9 were changed from OMIM 616854; skeletal anomalies; congenital cardiac and renal anom to Even-plus syndrome, OMIM 616854; skeletal anomalies; congenital cardiac and renal anom
Intellectual disability syndromic and non-syndromic v0.2972 HSPA9 Sue White Classified gene: HSPA9 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2972 HSPA9 Sue White Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2971 HSPA9 Sue White commented on gene: HSPA9: 2 patients with dev delay in 5 published patients with Even-plus syndrome
Intellectual disability syndromic and non-syndromic v0.2971 HSPA9 Sue White gene: HSPA9 was added
gene: HSPA9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 32869452; 26598328
Phenotypes for gene: HSPA9 were set to OMIM 616854; skeletal anomalies; congenital cardiac and renal anom
Penetrance for gene: HSPA9 were set to Complete
Review for gene: HSPA9 was set to AMBER
Added comment: Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.68 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.68 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.68 HSPA9 Zornitza Stark Classified gene: HSPA9 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.68 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.67 HSPA9 Zornitza Stark gene: HSPA9 was added
gene: HSPA9 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452
Phenotypes for gene: HSPA9 were set to Even-plus syndrome, MIM# 616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease
Sources: Literature
Congenital Heart Defect v0.66 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Congenital Heart Defect v0.66 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.66 HSPA9 Zornitza Stark Phenotypes for gene: HSPA9 were changed from https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose to Even-plus syndrome, MIM# 616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Achromatopsia v0.21 Sue White removed gene:HSPA9 from the panel
Congenital Heart Defect v0.65 HSPA9 Zornitza Stark Classified gene: HSPA9 as Green List (high evidence)
Congenital Heart Defect v0.65 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Mendeliome v0.4262 CFAP58 Zornitza Stark Phenotypes for gene: CFAP58 were changed from Multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 32791035) to Multiple morphological abnormalities of the sperm flagella (MMAF)
Mendeliome v0.4261 CFAP58 Zornitza Stark Marked gene: CFAP58 as ready
Mendeliome v0.4261 CFAP58 Zornitza Stark Gene: cfap58 has been classified as Green List (High Evidence).
Mendeliome v0.4261 CFAP58 Zornitza Stark Classified gene: CFAP58 as Green List (high evidence)
Mendeliome v0.4261 CFAP58 Zornitza Stark Gene: cfap58 has been classified as Green List (High Evidence).
Mendeliome v0.4260 WASHC4 Zornitza Stark Marked gene: WASHC4 as ready
Mendeliome v0.4260 WASHC4 Zornitza Stark Gene: washc4 has been classified as Green List (High Evidence).
Mendeliome v0.4260 WASHC4 Zornitza Stark Classified gene: WASHC4 as Green List (high evidence)
Mendeliome v0.4260 WASHC4 Zornitza Stark Gene: washc4 has been classified as Green List (High Evidence).
Mendeliome v0.4259 WASHC4 Zornitza Stark gene: WASHC4 was added
gene: WASHC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WASHC4 were set to 31953988; 21498477
Phenotypes for gene: WASHC4 were set to Mental retardation, autosomal recessive 43, MIM #615817
Review for gene: WASHC4 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Mendeliome v0.4258 DNAJC7 Seb Lunke Marked gene: DNAJC7 as ready
Mendeliome v0.4258 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4258 DNAJC7 Seb Lunke Classified gene: DNAJC7 as Amber List (moderate evidence)
Mendeliome v0.4258 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2970 WASHC4 Zornitza Stark reviewed gene: WASHC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4257 DNAJC7 Seb Lunke gene: DNAJC7 was added
gene: DNAJC7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJC7 were set to 31768050
Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis
Review for gene: DNAJC7 was set to AMBER
Added comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. However gene described as risk factor, unclear why.

DOI: https://doi.org/10.1212/NXG.0000000000000503
Sources: Literature
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Marked gene: DNAJC7 as ready
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Classified gene: DNAJC7 as Amber List (moderate evidence)
Motor Neurone Disease v0.52 DNAJC7 Seb Lunke Gene: dnajc7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2970 WASHC4 Alison Yeung Classified gene: WASHC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2970 WASHC4 Alison Yeung Gene: washc4 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.51 DNAJC7 Seb Lunke gene: DNAJC7 was added
gene: DNAJC7 was added to Motor Neuron Disease. Sources: Literature
Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJC7 were set to 31768050
Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis
Review for gene: DNAJC7 was set to AMBER
Added comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. However gene described as risk factor, unclear why.

DOI: https://doi.org/10.1212/NXG.0000000000000503
Sources: Literature
Macrocephaly_Megalencephaly v0.49 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Macrocephaly_Megalencephaly v0.49 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.49 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from intellectual disability; macrocephaly; epilepsy; autism to intellectual disability; macrocephaly; epilepsy; autism; Mental retardation, autosomal dominant 39, MIM# 616521
Mendeliome v0.4256 SVIL Melanie Marty Deleted their comment
Intellectual disability syndromic and non-syndromic v0.2969 WASHC4 Alison Yeung Deleted their comment
Mendeliome v0.4256 SVIL Melanie Marty edited their review of gene: SVIL: Added comment: Four patients from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.; Changed rating: AMBER
Mendeliome v0.4256 CFAP58 Crystle Lee edited their review of gene: CFAP58: Added comment: Biallelic variants reported in 5 unrelated males with nultiple morphological abnormalities of the sperm flagella (MMAF). Knockout mice were infertile.; Changed rating: GREEN; Changed publications: 32791035; Changed phenotypes: Multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 32791035); Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.48 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Macrocephaly_Megalencephaly v0.48 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Congenital Heart Defect v0.62 HSPA9 Sue White gene: HSPA9 was added
gene: HSPA9 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452
Phenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosum
4/5 with congenital heart disease
Sources: Literature
Congenital Heart Defect v0.62 HSPA9 Sue White gene: HSPA9 was added
gene: HSPA9 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452
Phenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosum
4/5 with congenital heart disease
Sources: Literature
Macrocephaly_Megalencephaly v0.47 MYT1L Natasha Brown gene: MYT1L was added
gene: MYT1L was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to (PMID: 32065501)
Phenotypes for gene: MYT1L were set to intellectual disability; macrocephaly; epilepsy; autism
Review for gene: MYT1L was set to GREEN
Added comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. 66% in a recent cohort had seizures. 13% had macrocephaly
Sources: Literature
Autism v0.111 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Autism v0.111 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Autism v0.111 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM# 616521
Mendeliome v0.4256 CFAP58 Crystle Lee commented on gene: CFAP58
Mendeliome v0.4256 CFAP58 Crystle Lee Deleted their review
Autism v0.110 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Intellectual disability syndromic and non-syndromic v0.2969 WASHC4 Alison Yeung reviewed gene: WASHC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953988; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4256 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Mendeliome v0.4256 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Mendeliome v0.4256 HSPA9 Zornitza Stark Phenotypes for gene: HSPA9 were changed from to Anemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM#616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Autism v0.110 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Autism v0.110 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Mendeliome v0.4255 HSPA9 Zornitza Stark Publications for gene: HSPA9 were set to
Autism v0.109 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Autism v0.109 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Mendeliome v0.4254 HSPA9 Zornitza Stark Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4253 HSPA9 Seb Lunke Mode of inheritance for gene: HSPA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.109 MYT1L Natasha Brown Classified gene: MYT1L as Green List (high evidence)
Autism v0.109 MYT1L Natasha Brown Gene: myt1l has been classified as Green List (High Evidence).
Mendeliome v0.4252 SVIL Zornitza Stark Marked gene: SVIL as ready
Mendeliome v0.4252 SVIL Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families only.
Mendeliome v0.4252 SVIL Zornitza Stark Gene: svil has been classified as Amber List (Moderate Evidence).
Achromatopsia v0.20 HSPA9 Sue White Classified gene: HSPA9 as Green List (high evidence)
Achromatopsia v0.20 HSPA9 Sue White Gene: hspa9 has been classified as Green List (High Evidence).
Achromatopsia v0.19 HSPA9 Sue White gene: HSPA9 was added
gene: HSPA9 was added to Achromatopsia. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 32869452; 26598328
Phenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Penetrance for gene: HSPA9 were set to Complete
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants cause a syndromic skeletal dysplasia with small nose, microtia and cardiac and renal malformations.
2/5 have developmental delay and corpus callosum anomalies
Sources: Literature
Autism v0.108 MYT1L Natasha Brown gene: MYT1L was added
gene: MYT1L was added to Autism. Sources: Literature
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to PMID: 32065501
Review for gene: MYT1L was set to GREEN
Added comment: 9 new cases reported bringing total to 51, some of which are larger CNVs including additional genes (2p25.3 deletion syndrome). Of those with microdeletion or SNV of MYT1L only, 66.7% (12/18) had autism.
Sources: Literature
Mendeliome v0.4252 SVIL Zornitza Stark Classified gene: SVIL as Amber List (moderate evidence)
Mendeliome v0.4252 SVIL Zornitza Stark Gene: svil has been classified as Amber List (Moderate Evidence).
Mendeliome v0.4251 CFAP57 Zornitza Stark Mode of inheritance for gene: CFAP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4250 CFAP57 Zornitza Stark reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: 21574244, 32764743; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4250 HSPA9 Sue White reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26598328, 32869452; Phenotypes: https://www.omim.org/entry/616854, skeletal anomalies, congenital cardiac and renal anomalies: marked small nose; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.125 CFAP57 Zornitza Stark Phenotypes for gene: CFAP57 were changed from to Van der Woude Syndrome; Primary ciliary dyskinesia
Ciliary Dyskinesia v0.124 CFAP57 Zornitza Stark Publications for gene: CFAP57 were set to
Genetic Epilepsy v0.848 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Genetic Epilepsy v0.848 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.848 MYT1L Zornitza Stark Classified gene: MYT1L as Green List (high evidence)
Genetic Epilepsy v0.848 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.847 MYT1L Zornitza Stark gene: MYT1L was added
gene: MYT1L was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to 32065501
Phenotypes for gene: MYT1L were set to Mental retardation, autosomal dominant 39, MIM# 616521
Review for gene: MYT1L was set to GREEN
Added comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. 66% in a recent cohort had seizures.
Sources: Literature
Mendeliome v0.4250 SVIL Melanie Marty gene: SVIL was added
gene: SVIL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SVIL were set to 32779703
Phenotypes for gene: SVIL were set to myopathy
Penetrance for gene: SVIL were set to unknown
Review for gene: SVIL was set to GREEN
Added comment: Four patients from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2969 ATP1A3 Seb Lunke Classified gene: ATP1A3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2969 ATP1A3 Seb Lunke Gene: atp1a3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2968 ATP1A3 Seb Lunke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4250 HSPA9 Zornitza Stark edited their review of gene: HSPA9: Changed publications: 26491070
Mendeliome v0.4250 HSPA9 Zornitza Stark reviewed gene: HSPA9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 4, MIM# 182170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.44 COL27A1 Alison Yeung Classified gene: COL27A1 as Green List (high evidence)
Skeletal dysplasia v0.44 COL27A1 Alison Yeung Gene: col27a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.43 COL27A1 Alison Yeung Classified gene: COL27A1 as Green List (high evidence)
Skeletal dysplasia v0.43 COL27A1 Alison Yeung Gene: col27a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.42 COL27A1 Alison Yeung Marked gene: COL27A1 as ready
Skeletal dysplasia v0.42 COL27A1 Alison Yeung Gene: col27a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.42 COL27A1 Alison Yeung gene: COL27A1 was added
gene: COL27A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503
Phenotypes for gene: COL27A1 were set to OMIM #615155 Steel Syndrome
Mendeliome v0.4250 CFAP58 Crystle Lee gene: CFAP58 was added
gene: CFAP58 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CFAP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP58 were set to 32791035
Phenotypes for gene: CFAP58 were set to Multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 32791035)
Review for gene: CFAP58 was set to AMBER
Added comment: 5 unrelated males reported with biallelic loss of function variants. Knockout mice were infertile (Abstract only)
Sources: Expert Review
Ciliary Dyskinesia v0.123 CFAP57 Elena Savva edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.

PMID: 21574244 - patient with a heterozygous missense and Van der Woude Syndrome. Classed in OMIM as a VUS.

PMID: 32764743 - one homozygous patient p.(Arg588*) w/ PCD - variant results in the skipping of exon 11 (58 amino acids), which may be due to disruption of an exonic splicing enhancer. Functional studies on Chlamydomonas animal model is defective. Potentially the same patient as bioRxiv; Changed publications: PMID: 21574244, 32764743
Intellectual disability syndromic and non-syndromic v0.2968 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Mendeliome v0.4250 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Mendeliome v0.4250 MYT1L Zornitza Stark Publications for gene: MYT1L were set to 28859103
Mendeliome v0.4249 MYT1L Zornitza Stark edited their review of gene: MYT1L: Added comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems.; Changed publications: 28859103, 32065501
Intellectual disability syndromic and non-syndromic v0.2968 MYT1L Zornitza Stark Publications for gene: MYT1L were set to 28859103
Intellectual disability syndromic and non-syndromic v0.2967 MYT1L Zornitza Stark reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32065501; Phenotypes: Mental retardation, autosomal dominant 39, MIM# 616521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4249 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Mendeliome v0.4249 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Mendeliome v0.4249 ARID1A Zornitza Stark Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome 2 (MIM#614607)
Mendeliome v0.4248 ARID1A Zornitza Stark Publications for gene: ARID1A were set to
Mendeliome v0.4247 ARID1A Zornitza Stark Mode of inheritance for gene: ARID1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4246 PDE10A Zornitza Stark Marked gene: PDE10A as ready
Mendeliome v0.4246 PDE10A Zornitza Stark Gene: pde10a has been classified as Green List (High Evidence).
Mendeliome v0.4246 PDE10A Zornitza Stark Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Striatal degeneration, autosomal dominant, MIM# 616922
Mendeliome v0.4245 PDE10A Zornitza Stark Publications for gene: PDE10A were set to
Mendeliome v0.4244 PDE10A Zornitza Stark Mode of inheritance for gene: PDE10A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4243 PDE10A Zornitza Stark reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27058446, 27058447; Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921, Striatal degeneration, autosomal dominant, MIM# 616922; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.163 MYSM1 Zornitza Stark Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Combined Immunodeficiency v0.162 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.162 MYSM1 Zornitza Stark edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305
Bone Marrow Failure v0.82 MYSM1 Zornitza Stark Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Mendeliome v0.4243 MYSM1 Zornitza Stark Publications for gene: MYSM1 were set to 4288411; 28115216; 26220525
Mendeliome v0.4242 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark changed review comment from: Aarly-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Mendeliome v0.4242 MYSM1 Zornitza Stark edited their review of gene: MYSM1: Changed publications: 4288411, 28115216, 26220525, 32640305
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list; to: Aarly-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Mendeliome v0.4242 PNPLA8 Kristin Rigbye reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29681094, 25512002; Phenotypes: Mitochondrial myopathy with lactic acidosis (MIM#251950), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2967 ARID1A Crystle Lee reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4242 ARID1A Crystle Lee reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list; to: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305
Mendeliome v0.4242 BTG4 Zornitza Stark Phenotypes for gene: BTG4 were changed from Zygotic cleavage failure (ZCF) to Zygotic cleavage failure (ZCF); Oocyte maturation defect, MIM#619009
Mendeliome v0.4241 BTG4 Zornitza Stark reviewed gene: BTG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte maturation defect, MIM#619009; Mode of inheritance: None
Dystonia and Chorea v0.111 PCCB Zornitza Stark Marked gene: PCCB as ready
Dystonia and Chorea v0.111 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Dystonia and Chorea v0.111 PCCB Zornitza Stark Classified gene: PCCB as Green List (high evidence)
Dystonia and Chorea v0.111 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Dystonia and Chorea v0.110 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 30879957
Phenotypes for gene: PCCB were set to Propionicacidemia, MIM# 606054
Review for gene: PCCB was set to GREEN
Added comment: The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults is pertinent to this panel as it has a milder phenotype. It is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy.
Sources: Expert list
Dystonia and Chorea v0.109 PCCA Zornitza Stark Marked gene: PCCA as ready
Dystonia and Chorea v0.109 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Dystonia and Chorea v0.109 PCCA Zornitza Stark Classified gene: PCCA as Green List (high evidence)
Dystonia and Chorea v0.109 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Dystonia and Chorea v0.108 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 30879957
Phenotypes for gene: PCCA were set to Propionicacidemia, MIM# 606054
Review for gene: PCCA was set to GREEN
Added comment: The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults is pertinent to this panel as it has a milder phenotype. It is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy.
Sources: Expert list
Hereditary Spastic Paraplegia v0.115 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Hereditary Spastic Paraplegia v0.115 KIF1C Zornitza Stark Gene: kif1c has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.115 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Hereditary Spastic Paraplegia v0.114 KIF1C Zornitza Stark reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.223 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Ataxia v0.222 KIF1C Zornitza Stark reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4241 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Mendeliome v0.4241 KIF1C Zornitza Stark Gene: kif1c has been classified as Green List (High Evidence).
Mendeliome v0.4241 KIF1C Zornitza Stark Phenotypes for gene: KIF1C were changed from to Spastic ataxia 2, autosomal recessive, MIM# 611302
Mendeliome v0.4240 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Mendeliome v0.4239 KIF1C Zornitza Stark Mode of inheritance for gene: KIF1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4238 KIF1C Zornitza Stark reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.107 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Dystonia and Chorea v0.107 KIF1C Zornitza Stark Gene: kif1c has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.107 KIF1C Zornitza Stark Classified gene: KIF1C as Amber List (moderate evidence)
Dystonia and Chorea v0.107 KIF1C Zornitza Stark Gene: kif1c has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.106 KIF1C Zornitza Stark gene: KIF1C was added
gene: KIF1C was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1C were set to 31413903
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, MIM# 611302
Review for gene: KIF1C was set to AMBER
Added comment: Neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. At least one report of a more complex movement disorder including dystonia.
Sources: Expert list
Paroxysmal Dyskinesia v0.42 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Paroxysmal Dyskinesia v0.42 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.42 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Episodic ataxia; Epileptic encephalopathy, early infantile, 32, MIM# 616366
Paroxysmal Dyskinesia v0.41 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Paroxysmal Dyskinesia v0.40 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.39 KCNA2 Zornitza Stark edited their review of gene: KCNA2: Changed rating: GREEN
Paroxysmal Dyskinesia v0.39 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: ; Mode of pathogenicity: None; Publications: 27733563, 27543892, 25477152; Phenotypes: Episodic ataxia, Epileptic encephalopathy, early infantile, 32 616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.846 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Genetic Epilepsy v0.846 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.846 IRF2BPL Zornitza Stark Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088
Genetic Epilepsy v0.845 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Genetic Epilepsy v0.844 IRF2BPL Zornitza Stark Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.843 IRF2BPL Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031, 30166628; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.105 ACTB Zornitza Stark Marked gene: ACTB as ready
Dystonia and Chorea v0.105 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Dystonia and Chorea v0.105 ACTB Zornitza Stark Mode of pathogenicity for gene: ACTB was changed from to Other
Dystonia and Chorea v0.104 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Dystonia and Chorea v0.104 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.104 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Dystonia and Chorea v0.104 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.104 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Dystonia and Chorea v0.103 GNAO1 Zornitza Stark Mode of pathogenicity for gene: GNAO1 was changed from to Other
Dystonia and Chorea v0.102 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Dystonia and Chorea v0.102 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 PDHX Zornitza Stark Marked gene: PDHX as ready
Dystonia and Chorea v0.102 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Dystonia and Chorea v0.102 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Dystonia and Chorea v0.102 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Dystonia and Chorea v0.102 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 SUOX Zornitza Stark Marked gene: SUOX as ready
Dystonia and Chorea v0.102 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Dystonia and Chorea v0.102 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.102 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Dystonia and Chorea v0.102 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.102 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Dystonia and Chorea v0.102 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.102 CHMP2B Zornitza Stark Marked gene: CHMP2B as ready
Dystonia and Chorea v0.102 CHMP2B Zornitza Stark Gene: chmp2b has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.102 EARS2 Zornitza Stark Marked gene: EARS2 as ready
Dystonia and Chorea v0.102 EARS2 Zornitza Stark Gene: ears2 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.102 GAMT Zornitza Stark Marked gene: GAMT as ready
Dystonia and Chorea v0.102 GAMT Zornitza Stark Gene: gamt has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.102 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Dystonia and Chorea v0.102 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.102 MAPT Zornitza Stark Marked gene: MAPT as ready
Dystonia and Chorea v0.102 MAPT Zornitza Stark Gene: mapt has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.102 MAPT Zornitza Stark Classified gene: MAPT as Amber List (moderate evidence)
Dystonia and Chorea v0.102 MAPT Zornitza Stark Gene: mapt has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.101 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Dystonia and Chorea v0.101 MAT1A Zornitza Stark Gene: mat1a has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Dystonia and Chorea v0.101 MMADHC Zornitza Stark Gene: mmadhc has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Dystonia and Chorea v0.101 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Dystonia and Chorea v0.101 PLP1 Zornitza Stark Gene: plp1 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Dystonia and Chorea v0.101 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Dystonia and Chorea v0.101 VPS37A Zornitza Stark Gene: vps37a has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Dystonia and Chorea v0.101 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 UNC80 Zornitza Stark Marked gene: UNC80 as ready
Dystonia and Chorea v0.101 UNC80 Zornitza Stark Gene: unc80 has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.101 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Dystonia and Chorea v0.101 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.101 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Dystonia and Chorea v0.100 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301328; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia and Chorea v0.100 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Dystonia and Chorea v0.100 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Dystonia and Chorea v0.100 HIBCH Zornitza Stark Classified gene: HIBCH as Green List (high evidence)
Dystonia and Chorea v0.100 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Dystonia and Chorea v0.99 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Review for gene: HIBCH was set to GREEN
Added comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Dystonia is a feature.
Sources: Expert Review
Regression v0.150 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Regression v0.150 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Regression v0.150 HIBCH Zornitza Stark Classified gene: HIBCH as Green List (high evidence)
Regression v0.150 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Regression v0.149 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Regression. Sources: Expert list
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Review for gene: HIBCH was set to GREEN
Added comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Multiple unrelated families reported.
Sources: Expert list
Dystonia and Chorea v0.98 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Dystonia and Chorea v0.98 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.98 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Dystonia and Chorea v0.98 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.97 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 32677093; 32858208
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Review for gene: ECHS1 was set to GREEN
Added comment: Paroxysmal and non-paroxysmal dystonia described as a manifestation of this metabolic disorder.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.21 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
Added comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation.
Sources: Expert Review
Microcephaly v0.481 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Microcephaly v0.481 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Microcephaly v0.481 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence)
Microcephaly v0.481 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.96 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Dystonia and Chorea v0.96 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.96 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence)
Dystonia and Chorea v0.96 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Microcephaly v0.480 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
Added comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation.
Sources: Expert Review
Dystonia and Chorea v0.95 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Dystonia - complex. Sources: Expert Review
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
Added comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation.
Sources: Expert Review
Mendeliome v0.4238 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Mendeliome v0.4238 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Mendeliome v0.4238 GTPBP2 Zornitza Stark Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome, MIM#617988
Mendeliome v0.4237 GTPBP2 Zornitza Stark Publications for gene: GTPBP2 were set to
Mendeliome v0.4236 GTPBP2 Zornitza Stark Mode of inheritance for gene: GTPBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4235 GTPBP2 Zornitza Stark reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 29449720, 30790272; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.843 GTPBP2 Zornitza Stark changed review comment from: Six unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list; to: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2967 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Intellectual disability syndromic and non-syndromic v0.2967 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2967 GTPBP2 Zornitza Stark Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome, MIM#617988
Intellectual disability syndromic and non-syndromic v0.2966 GTPBP2 Zornitza Stark Publications for gene: GTPBP2 were set to
Intellectual disability syndromic and non-syndromic v0.2965 GTPBP2 Zornitza Stark Mode of inheritance for gene: GTPBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2964 GTPBP2 Zornitza Stark reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 29449720, 30790272; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.843 GTPBP2 Zornitza Stark changed review comment from: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list; to: Six unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list
Genetic Epilepsy v0.843 GTPBP2 Zornitza Stark edited their review of gene: GTPBP2: Changed publications: 26675814, 29449720, 30790272
Mendeliome v0.4235 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Mendeliome v0.4235 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2964 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Intellectual disability syndromic and non-syndromic v0.2964 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2964 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from to Mental retardation, autosomal dominant 42, MIM# 616973
Intellectual disability syndromic and non-syndromic v0.2963 GNB1 Zornitza Stark Publications for gene: GNB1 were set to
Mendeliome v0.4235 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from to Mental retardation, autosomal dominant 42, MIM# 616973
Mendeliome v0.4234 GNB1 Zornitza Stark Publications for gene: GNB1 were set to
Intellectual disability syndromic and non-syndromic v0.2962 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4233 GNB1 Zornitza Stark Mode of inheritance for gene: GNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2961 GNB1 Zornitza Stark reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108799, 30194818, 27668284, 31034681; Phenotypes: Mental retardation, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4232 GNB1 Zornitza Stark reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108799, 30194818, 27668284, 31034681; Phenotypes: Mental retardation, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.94 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Dystonia and Chorea v0.94 GNB1 Zornitza Stark Gene: gnb1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.94 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42; Myoclonus dystonia to Mental retardation, autosomal dominant 42, MIM# 616973; Myoclonus dystonia
Dystonia and Chorea v0.93 GNB1 Zornitza Stark Publications for gene: GNB1 were set to 30194818
Dystonia and Chorea v0.92 GNB1 Zornitza Stark edited their review of gene: GNB1: Changed rating: GREEN
Dystonia and Chorea v0.92 GNB1 Zornitza Stark reviewed gene: GNB1: Rating: RED; Mode of pathogenicity: None; Publications: 27108799, 30194818, 27668284, 31034681; Phenotypes: Mental retardation, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.92 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Dystonia and Chorea v0.92 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.92 GJC2 Zornitza Stark Classified gene: GJC2 as Green List (high evidence)
Dystonia and Chorea v0.92 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.91 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 15192806; 18094336
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM# 608804
Review for gene: GJC2 was set to GREEN
Added comment: Complex CNS involvement manifesting as nystagmus, impaired motor development, ataxia, choreoathetotic movements, dystonia, dysarthria, and progressive spasticity, in addition to intellectual disability. Multiple families reported.
Sources: Expert list
Dystonia and Chorea v0.90 GBA Zornitza Stark Marked gene: GBA as ready
Dystonia and Chorea v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Dystonia and Chorea v0.90 GBA Zornitza Stark Classified gene: GBA as Green List (high evidence)
Dystonia and Chorea v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Dystonia and Chorea v0.89 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27789132
Phenotypes for gene: GBA were set to Gaucher disease, type III, MIM# 231000
Review for gene: GBA was set to GREEN
Added comment: Dystonia-like hyperkinetic movement disorder reported in GD3.
Sources: Expert list
Dystonia and Chorea v0.88 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Dystonia and Chorea v0.88 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.88 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Dystonia and Chorea v0.87 FOXG1 Zornitza Stark reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27029630; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2961 FITM2 Zornitza Stark Marked gene: FITM2 as ready
Intellectual disability syndromic and non-syndromic v0.2961 FITM2 Zornitza Stark Gene: fitm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2961 FITM2 Zornitza Stark Classified gene: FITM2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2961 FITM2 Zornitza Stark Gene: fitm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2960 FITM2 Zornitza Stark gene: FITM2 was added
gene: FITM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FITM2 were set to 28067622; 30214770; 30288795
Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635
Review for gene: FITM2 was set to GREEN
Added comment: Autosomal recessive condition characterised by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy. 7 individuals from three unrelated families reported, supportive Drosophila model.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.20 FITM2 Zornitza Stark gene: FITM2 was added
gene: FITM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FITM2 were set to 28067622; 30214770; 30288795
Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635
Review for gene: FITM2 was set to GREEN
Added comment: Autosomal recessive condition characterised by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy. 7 individuals from 3 unrelated families reported, supportive Drosophila model.
Sources: Expert list
Dystonia and Chorea v0.87 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Dystonia and Chorea v0.87 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.87 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cholestanol storage disease; Dystonia to Cerebrotendinous xanthomatosis, MIM# 213700; Cholestanol storage disease; Dystonia
Dystonia and Chorea v0.86 CYP27A1 Zornitza Stark Publications for gene: CYP27A1 were set to
Dystonia and Chorea v0.85 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Changed rating: GREEN
Dystonia and Chorea v0.85 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: ; Mode of pathogenicity: None; Publications: 19373932, 21531161, 25424010; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: None
Dystonia and Chorea v0.85 CP Zornitza Stark Marked gene: CP as ready
Dystonia and Chorea v0.85 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Dystonia and Chorea v0.85 CP Zornitza Stark Phenotypes for gene: CP were changed from Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290 to Aceruloplasminaemia, MIM#604290
Dystonia and Chorea v0.84 CP Zornitza Stark commented on gene: CP: Iron deposition in brain, specifically in basal ganglia, resulting in extrapyramidal movement disorders as part of the neurodegenerative phenotype.
Dystonia and Chorea v0.84 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Dystonia and Chorea v0.84 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.84 CLN3 Zornitza Stark Classified gene: CLN3 as Green List (high evidence)
Dystonia and Chorea v0.84 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.83 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN3 were set to 19353721
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200
Review for gene: CLN3 was set to GREEN
Added comment: Movement disorders, including dystonia, are a feature of Batten disease.
Sources: Expert list
Paroxysmal Dyskinesia v0.39 CLCN1 Zornitza Stark reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia and Chorea v0.82 CACNA1G Zornitza Stark changed review comment from: Variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia.
Sources: Expert list; to: Four unrelated individuals reported with variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia.
Sources: Expert list
Dystonia and Chorea v0.82 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Dystonia and Chorea v0.82 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Dystonia and Chorea v0.82 CACNA1G Zornitza Stark Classified gene: CACNA1G as Green List (high evidence)
Dystonia and Chorea v0.82 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Dystonia and Chorea v0.81 CACNA1G Zornitza Stark gene: CACNA1G was added
gene: CACNA1G was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1G were set to 29878067
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087
Review for gene: CACNA1G was set to GREEN
Added comment: Variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia.
Sources: Expert list
Dystonia and Chorea v0.80 C9orf72 Zornitza Stark Marked gene: C9orf72 as ready
Dystonia and Chorea v0.80 C9orf72 Zornitza Stark Gene: c9orf72 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.80 C9orf72 Zornitza Stark Classified gene: C9orf72 as Green List (high evidence)
Dystonia and Chorea v0.80 C9orf72 Zornitza Stark Gene: c9orf72 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.79 C9orf72 Zornitza Stark gene: C9orf72 was added
gene: C9orf72 was added to Dystonia - complex. Sources: Expert list
STR tags were added to gene: C9orf72.
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C9orf72 were set to 26166205; 24363131; 26187722
Phenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550
Review for gene: C9orf72 was set to GREEN
Added comment: Dystonia is a well described feature of this condition. Note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene.
Sources: Expert list
Dystonia and Chorea v0.78 AUH Zornitza Stark Marked gene: AUH as ready
Dystonia and Chorea v0.78 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Dystonia and Chorea v0.78 AUH Zornitza Stark reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.78 ARX Zornitza Stark Marked gene: ARX as ready
Dystonia and Chorea v0.78 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Dystonia and Chorea v0.78 ARX Zornitza Stark Publications for gene: ARX were set to
Dystonia and Chorea v0.77 ARX Zornitza Stark edited their review of gene: ARX: Changed publications: 11889467, 15200506
Dystonia and Chorea v0.77 ARX Zornitza Stark Mode of pathogenicity for gene: ARX was changed from to Other
Dystonia and Chorea v0.76 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Early infantile epileptic encephalopathy; Dystonia to Partington syndrome, MIM# 309510; Dystonia
Dystonia and Chorea v0.75 ARX Zornitza Stark reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Partington syndrome, MIM# 309510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.481 NDUFB10 Zornitza Stark Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Mitochondrial disease v0.480 NDUFB10 Zornitza Stark reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4232 NDUFB10 Zornitza Stark Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Mendeliome v0.4231 NDUFB10 Zornitza Stark edited their review of gene: NDUFB10: Changed phenotypes: fatal infantile lactic acidosis, cardiomyopathy, Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Mitochondrial disease v0.480 SSBP1 Zornitza Stark Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Mitochondrial disease v0.479 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None
Optic Atrophy v0.114 SSBP1 Zornitza Stark Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Optic Atrophy v0.113 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None
Mendeliome v0.4231 SSBP1 Zornitza Stark Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Mendeliome v0.4230 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None
Mendeliome v0.4230 MCM10 Zornitza Stark Marked gene: MCM10 as ready
Mendeliome v0.4230 MCM10 Zornitza Stark Gene: mcm10 has been classified as Red List (Low Evidence).
Mendeliome v0.4230 MCM10 Zornitza Stark gene: MCM10 was added
gene: MCM10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM10 were set to 32865517
Phenotypes for gene: MCM10 were set to Susceptibility to CMV
Review for gene: MCM10 was set to RED
Added comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV.
Sources: Literature
Susceptibility to Viral Infections v0.67 MCM10 Zornitza Stark Marked gene: MCM10 as ready
Susceptibility to Viral Infections v0.67 MCM10 Zornitza Stark Gene: mcm10 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.67 MCM10 Zornitza Stark Mode of inheritance for gene: MCM10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.66 MCM10 Zornitza Stark gene: MCM10 was added
gene: MCM10 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: MCM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MCM10 were set to 32865517
Phenotypes for gene: MCM10 were set to Susceptibility to CMV
Review for gene: MCM10 was set to RED
Added comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV.
Sources: Literature
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Marked gene: TET2 as ready
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Gene: tet2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Classified gene: TET2 as Green List (high evidence)
Disorders of immune dysregulation v0.64 TET2 Zornitza Stark Gene: tet2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.63 TET2 Zornitza Stark gene: TET2 was added
gene: TET2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: TET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TET2 were set to 32518946
Phenotypes for gene: TET2 were set to Immune dysregulation; Lymphoma
Review for gene: TET2 was set to GREEN
Added comment: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.
Sources: Literature
Mendeliome v0.4229 TET2 Zornitza Stark changed review comment from: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.; to: Mono-allelic variants: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.
Mendeliome v0.4229 TET2 Zornitza Stark changed review comment from: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution.; to: Mono-allelic variants: Association study (PMID 32330418) found enrichment of non-coding and LoF TET2 variants in cohort of individuals with early onset dementia, unclear if this is monogenic or polygenic contribution.
Mendeliome v0.4229 TET2 Zornitza Stark changed review comment from: PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.; to: Bi-allelic variants PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.
Mendeliome v0.4229 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.; to: Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.
Mendeliome v0.4229 TET2 Zornitza Stark edited their review of gene: TET2: Added comment: PMID 32518946: 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin, and bi-allelic variants in TET2.; Changed rating: GREEN; Changed publications: 30890702, 31827242, 32330418, 32518946; Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Microcephaly v0.479 CASK Zornitza Stark Marked gene: CASK as ready
Microcephaly v0.479 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Microcephaly v0.479 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Microcephaly v0.478 CASK Zornitza Stark Publications for gene: CASK were set to
Microcephaly v0.477 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to Other
Microcephaly v0.476 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 19165920, 21735175; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: Other
Microcephaly v0.476 ATR Zornitza Stark Marked gene: ATR as ready
Microcephaly v0.476 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Microcephaly v0.476 ATR Zornitza Stark Phenotypes for gene: ATR were changed from to Seckel syndrome 1, MIM# 210600
Microcephaly v0.475 ATR Zornitza Stark Publications for gene: ATR were set to
Microcephaly v0.474 ATR Zornitza Stark Mode of inheritance for gene: ATR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.473 ATR Zornitza Stark reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.19 YIF1B Zornitza Stark gene: YIF1B was added
gene: YIF1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098; 26077767
Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Review for gene: YIF1B was set to GREEN
Added comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.
Sources: Expert Review
Microcephaly v0.473 UGP2 Zornitza Stark edited their review of gene: UGP2: Changed rating: GREEN
Microcephaly v0.473 UBE3A Zornitza Stark reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Microcephaly v0.473 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mackenzie's Mission_Reproductive Carrier Screening v0.18 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Review for gene: DYNC1I2 was set to GREEN
Added comment: Five individuals from three unrelated families reported.
Sources: Expert Review
Microcephaly v0.472 DPM1 Zornitza Stark reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.472 DNMT3A Zornitza Stark edited their review of gene: DNMT3A: Changed rating: GREEN
Angelman Rett like syndromes v0.14 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Angelman Rett like syndromes v0.14 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.14 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Angelman Rett like syndromes v0.13 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Angelman Rett like syndromes v0.12 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.11 FOXG1 Zornitza Stark reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.472 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Microcephaly v0.472 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Microcephaly v0.472 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Microcephaly v0.471 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Microcephaly v0.470 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.469 FOXG1 Zornitza Stark edited their review of gene: FOXG1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.469 FOXG1 Zornitza Stark reviewed gene: FOXG1: Rating: ; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: None
Mendeliome v0.4229 FDXR Zornitza Stark Marked gene: FDXR as ready
Mendeliome v0.4229 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Mendeliome v0.4229 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717
Mendeliome v0.4228 FDXR Zornitza Stark Publications for gene: FDXR were set to
Mendeliome v0.4227 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4226 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Four families reported with bi-allelic variants in FDXR causing an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe progressive neurological phenotype. Mouse model exhibits neurodegeneration.; Changed rating: GREEN; Changed publications: 30250212, 28965846
Regression v0.148 FDXR Zornitza Stark Marked gene: FDXR as ready
Regression v0.148 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Regression v0.148 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Regression v0.147 FDXR Zornitza Stark Publications for gene: FDXR were set to
Regression v0.146 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.145 FDXR Zornitza Stark Classified gene: FDXR as Amber List (moderate evidence)
Regression v0.145 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Regression v0.144 FDXR Zornitza Stark reviewed gene: FDXR: Rating: AMBER; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2959 FDXR Zornitza Stark Publications for gene: FDXR were set to
Intellectual disability syndromic and non-syndromic v0.2958 FDXR Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Bi-allelic variants in FDXR cause an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe phenotype, including one with intellectual disability.
Intellectual disability syndromic and non-syndromic v0.2958 FDXR Zornitza Stark edited their review of gene: FDXR: Changed publications: 30250212
Microcephaly v0.469 FDXR Zornitza Stark Marked gene: FDXR as ready
Microcephaly v0.469 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
Microcephaly v0.469 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Microcephaly v0.468 FDXR Zornitza Stark Publications for gene: FDXR were set to
Microcephaly v0.467 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.466 FDXR Zornitza Stark Classified gene: FDXR as Red List (low evidence)
Microcephaly v0.466 FDXR Zornitza Stark Gene: fdxr has been classified as Red List (Low Evidence).
Microcephaly v0.465 FDXR Zornitza Stark reviewed gene: FDXR: Rating: RED; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4226 EXOC7 Zornitza Stark Marked gene: EXOC7 as ready
Mendeliome v0.4226 EXOC7 Zornitza Stark Gene: exoc7 has been classified as Green List (High Evidence).
Mendeliome v0.4226 EXOC7 Zornitza Stark Classified gene: EXOC7 as Green List (high evidence)
Mendeliome v0.4226 EXOC7 Zornitza Stark Gene: exoc7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2958 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Intellectual disability syndromic and non-syndromic v0.2958 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2958 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148
Intellectual disability syndromic and non-syndromic v0.2957 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Intellectual disability syndromic and non-syndromic v0.2956 EIF2S3 Zornitza Stark Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2955 EIF2S3 Zornitza Stark reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140, 32799315; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.465 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Microcephaly v0.465 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Mendeliome v0.4225 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Mendeliome v0.4225 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Mendeliome v0.4225 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148
Mendeliome v0.4224 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Mendeliome v0.4223 EIF2S3 Zornitza Stark Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4222 EIF2S3 Zornitza Stark reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140, 32799315; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.465 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148
Microcephaly v0.464 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Microcephaly v0.463 EIF2S3 Zornitza Stark Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.462 EIF2S3 Zornitza Stark reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140, 32799315; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.479 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.478 IDH3A Zornitza Stark edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007
Mendeliome v0.4222 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007
Mendeliome v0.4221 IDH3A Zornitza Stark edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007
Retinitis pigmentosa v0.60 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Retinitis pigmentosa v0.60 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.60 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa; Leber congenital amaurosis to Retinitis pigmentosa, MIM#619007; Leber congenital amaurosis
Intellectual disability syndromic and non-syndromic v0.2955 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from SETD1B-related neurodevelopmental disorder to Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000
Genetic Epilepsy v0.843 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability; SETD1B-related neurodevelopmental disorder to Epilepsy with myoclonic absences; intellectual disability; Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000
Mendeliome v0.4221 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability; SETD1B-related neurodevelopmental disorder to Epilepsy with myoclonic absences; intellectual disability; Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000
Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 CD46 Zornitza Stark Marked gene: CD46 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 CD46 Zornitza Stark Gene: cd46 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.32 CD46 Zornitza Stark Phenotypes for gene: CD46 were changed from to {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR; Atypical hemolytic uremic syndrome 2
Atypical Haemolytic Uraemic Syndrome_MPGN v0.31 CD46 Zornitza Stark Publications for gene: CD46 were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.30 CD46 Zornitza Stark Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.842 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Genetic Epilepsy v0.842 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.842 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Genetic Epilepsy v0.841 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Genetic Epilepsy v0.840 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.839 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Genetic Epilepsy v0.839 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.838 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.462 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Microcephaly v0.462 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.462 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Microcephaly v0.461 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Microcephaly v0.460 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Intellectual disability syndromic and non-syndromic v0.2954 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Microcephaly v0.460 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2954 TRIP13 Zornitza Stark changed review comment from: Early-onset Wilms tumor and either aneuploidy or premature chromatid separation in cells. Some individuals described as having additional developmental features, such as microcephaly, growth retardation, or developmental delay but these are highly variable.; to: Early-onset Wilms tumor and either aneuploidy or premature chromatid separation in cells. Some individuals described as having additional developmental features, such as microcephaly, growth retardation, or developmental delay but these are highly variable. Also note 5/6 reported families had the same homozygous variant, p.Arg354X, suggestive of founder effect.
Microcephaly v0.459 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Microcephaly v0.459 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.458 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.838 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Genetic Epilepsy v0.838 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.838 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267
Genetic Epilepsy v0.837 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Regression v0.144 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Regression v0.144 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Regression v0.144 TRAPPC6B Zornitza Stark Classified gene: TRAPPC6B as Green List (high evidence)
Regression v0.144 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.836 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Genetic Epilepsy v0.836 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Genetic Epilepsy v0.835 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.143 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Regression. Sources: Expert Review
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267
Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Review for gene: TRAPPC6B was set to GREEN
Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia.
Sources: Expert Review
Genetic Epilepsy v0.834 TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2954 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Intellectual disability syndromic and non-syndromic v0.2954 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2954 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Intellectual disability syndromic and non-syndromic v0.2953 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Intellectual disability syndromic and non-syndromic v0.2952 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2951 TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4220 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Mendeliome v0.4220 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Mendeliome v0.4220 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Mendeliome v0.4219 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.17 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267
Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Review for gene: TRAPPC6B was set to GREEN
Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia.
Sources: Expert Review
Mendeliome v0.4218 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.458 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Mendeliome v0.4217 TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.457 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Microcephaly v0.456 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.455 TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.455 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Microcephaly v0.455 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Regression v0.142 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Regression v0.142 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Regression v0.142 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Regression v0.141 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Regression v0.140 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.139 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.16 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 32369837; 28777934
Phenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Review for gene: TRAPPC12 was set to GREEN
Added comment: Four families reported with a severe progressive encephalopathy characterized by microcephaly, global developmental delay, and hearing loss.
Sources: Expert Review
Mendeliome v0.4217 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Mendeliome v0.4216 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Mendeliome v0.4215 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4214 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.455 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Microcephaly v0.454 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Microcephaly v0.453 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.452 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.15 TPRKB Zornitza Stark gene: TPRKB was added
gene: TPRKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPRKB were set to 28805828; 30053862
Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731
Review for gene: TPRKB was set to GREEN
Added comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.
Sources: Expert Review
Mendeliome v0.4214 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Mendeliome v0.4214 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Mendeliome v0.4214 TPRKB Zornitza Stark Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, MIM# 617731
Mendeliome v0.4213 TPRKB Zornitza Stark Publications for gene: TPRKB were set to
Mendeliome v0.4212 TPRKB Zornitza Stark Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4211 TPRKB Zornitza Stark reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.452 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Microcephaly v0.452 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Microcephaly v0.452 TPRKB Zornitza Stark Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, MIM# 617731
Microcephaly v0.451 TPRKB Zornitza Stark Publications for gene: TPRKB were set to
Microcephaly v0.450 TPRKB Zornitza Stark Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.449 TPRKB Zornitza Stark reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, MIM# 617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.133 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Proteinuria v0.133 TP53RK Zornitza Stark Gene: tp53rk has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.14 TP53RK Zornitza Stark gene: TP53RK was added
gene: TP53RK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP53RK were set to 28805828; 30053862
Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730
Review for gene: TP53RK was set to GREEN
Added comment: At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable.
Sources: Expert Review
Proteinuria v0.133 TP53RK Zornitza Stark Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730
Proteinuria v0.132 TP53RK Zornitza Stark Publications for gene: TP53RK were set to
Proteinuria v0.131 TP53RK Zornitza Stark Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.130 TP53RK Zornitza Stark reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4211 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Mendeliome v0.4211 TP53RK Zornitza Stark Gene: tp53rk has been classified as Green List (High Evidence).
Mendeliome v0.4211 TP53RK Zornitza Stark Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730
Mendeliome v0.4210 TP53RK Zornitza Stark Publications for gene: TP53RK were set to
Mendeliome v0.4209 TP53RK Zornitza Stark Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4208 TP53RK Zornitza Stark reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.449 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Microcephaly v0.449 TP53RK Zornitza Stark Gene: tp53rk has been classified as Green List (High Evidence).
Microcephaly v0.449 TP53RK Zornitza Stark Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730
Microcephaly v0.448 TP53RK Zornitza Stark Publications for gene: TP53RK were set to
Microcephaly v0.447 TP53RK Zornitza Stark Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.446 TP53RK Zornitza Stark reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.29 CD46 Kristin Rigbye reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26054645, 26826462; Phenotypes: {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR, Atypical hemolytic uremic syndrome 2; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Microcephaly v0.446 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Microcephaly v0.446 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Microcephaly v0.446 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Microcephaly v0.445 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Microcephaly v0.444 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.443 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728071, 22934316; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mackenzie's Mission_Reproductive Carrier Screening v0.13 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381; 32740904; 32162791
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4, MIM# 615663; Martsolf syndrome
Review for gene: TBC1D20 was set to GREEN
Added comment: 7 unrelated families reported with autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. One of the families is described as Martsolf syndrome, the rest as Warburg micro.
Sources: Expert list
Mendeliome v0.4208 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Mendeliome v0.4208 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Mendeliome v0.4208 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663; Martsolf syndrome
Mendeliome v0.4207 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Mendeliome v0.4206 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4205 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381, 32740904, 32162791; Phenotypes: Warburg micro syndrome 4, MIM# 615663, Martsolf syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.443 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Microcephaly v0.443 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Microcephaly v0.443 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663
Microcephaly v0.442 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Microcephaly v0.441 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.440 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.12 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Review for gene: TMEM94 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported.
Sources: Expert list
Mendeliome v0.4205 DHX34 Zornitza Stark Marked gene: DHX34 as ready
Mendeliome v0.4205 DHX34 Zornitza Stark Gene: dhx34 has been classified as Red List (Low Evidence).
Mendeliome v0.4205 DHX34 Zornitza Stark gene: DHX34 was added
gene: DHX34 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX34 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHX34 were set to 31256877
Phenotypes for gene: DHX34 were set to Intellectual disability; congenital anomalies
Review for gene: DHX34 was set to RED
Added comment: Three families reported. Two with bi-allelic variants and ID/multiple congenital anomalies but another molecular diagnosis present in both (variants in established genes). Single de novo missense in another individual with ID and dysmorphism. No supporting functional data. Overall RED rating for both MOI.
Sources: Literature
Mendeliome v0.4204 DDX54 Zornitza Stark Marked gene: DDX54 as ready
Mendeliome v0.4204 DDX54 Zornitza Stark Gene: ddx54 has been classified as Red List (Low Evidence).
Mendeliome v0.4204 DDX54 Zornitza Stark gene: DDX54 was added
gene: DDX54 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DDX54 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DDX54 were set to 31256877
Phenotypes for gene: DDX54 were set to Intellectual disability; congenital anomalies
Review for gene: DDX54 was set to RED
Added comment: Three individuals reported with different MOIs and different phenotypes. One with de novo variant and ID, another with bi-allelic variants and ID, and a third with bi-allelic variants and CAKUT. All variants are missense, no functional data. Overall, Red rating given inconsistent phenotypes and modes of inheritance, each one is essentially treated separately for now until further cases identified.
Sources: Literature
Mendeliome v0.4203 DHX16 Zornitza Stark Marked gene: DHX16 as ready
Mendeliome v0.4203 DHX16 Zornitza Stark Gene: dhx16 has been classified as Green List (High Evidence).
Mendeliome v0.4203 DHX16 Zornitza Stark Classified gene: DHX16 as Green List (high evidence)
Mendeliome v0.4203 DHX16 Zornitza Stark Gene: dhx16 has been classified as Green List (High Evidence).
Mendeliome v0.4202 DHX16 Zornitza Stark gene: DHX16 was added
gene: DHX16 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX16 were set to 31256877
Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733
Review for gene: DHX16 was set to GREEN
Added comment: Four unrelated individuals reported with de novo missense variants in this gene. Three of the individuals died in infancy, so phenotypic spectrum difficult to discern. Two had seizures. Individual with long-term survival had a progressive course, evidence of myopathy, loss of hearing and vision, and normal IQ.
Sources: Literature
Mendeliome v0.4201 DHX37 Zornitza Stark Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS); Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
Mendeliome v0.4200 DHX37 Zornitza Stark Publications for gene: DHX37 were set to 31337883; 31745530
Mendeliome v0.4199 DHX37 Zornitza Stark Mode of inheritance for gene: DHX37 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4198 DHX37 Zornitza Stark changed review comment from: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies.
Sources: Literature; to: Mono-allelic disease: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies.
Sources: Literature
Mendeliome v0.4198 DHX37 Zornitza Stark edited their review of gene: DHX37: Added comment: Bi-allelic disease: 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype, which also includes congenital anomalies particularly affecting the vertebrae and heart, but also some with microcephaly, brain anomalies.; Changed publications: 31337883, 31745530, 26539891, 31256877; Changed phenotypes: 46,XY gonadal dysgenesis, testicular regression syndrome (TRS), Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2951 DHX37 Zornitza Stark changed review comment from: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease

Much less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.; to: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease

Much less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic variants causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.
Intellectual disability syndromic and non-syndromic v0.2951 DHX37 Zornitza Stark changed review comment from: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease

Much less clear association between mono-allelic variants and disease, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease at this stage.; to: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease

Much less clear association between mono-allelic variants and ID, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease causing a neurodevelopmental phenotype at this stage. Note there is a separate association between mono allelic variants and DSD.
Intellectual disability syndromic and non-syndromic v0.2951 DHX37 Zornitza Stark Mode of inheritance for gene: DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2950 DHX37 Zornitza Stark changed review comment from: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype.

Much less clear association between mono-allelic variants and disease, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo.; to: Overall, 5 unrelated families with bi-allelic variants, all with ID as part of the phenotype. Green for bi-allelic disease

Much less clear association between mono-allelic variants and disease, two missense variants reported. Note one was mosaic, and for the other, paternal sample was not available, so not confirmed to be de novo. No mechanism for mono-allelic vs bi-allelic disease proposed. Overall, Red for mono-allelic disease at this stage.
Intellectual disability syndromic and non-syndromic v0.2950 DHX37 Zornitza Stark Marked gene: DHX37 as ready
Intellectual disability syndromic and non-syndromic v0.2950 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2950 DHX37 Zornitza Stark Classified gene: DHX37 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2950 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2949 DHX37 Zornitza Stark reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 31256877; Phenotypes: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2949 DHX37 Naomi Baker gene: DHX37 was added
gene: DHX37 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DHX37 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHX37 were set to PMID: 26539891; 31256877
Phenotypes for gene: DHX37 were set to Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
Review for gene: DHX37 was set to GREEN
Added comment: Two unrelated patients from consanguineous families reported with biallelic missense variants. Clinical presentation included severe microcephaly, DD/ID, and cortical atrophy (PMID: 26539891).

Five individuals who share a phenotype of DD and/or ID and CNS dysfunction. Three out of five individuals also have scoliosis, and two have cardiac phenotypes (PMID: 31256877). Three of the patients had bialleleic missense variants, while two patients had a de novo monoallelic missense variant.

Note that OMIM lists inheritance as biallelic, however two monoallelic cases reportes.
Sources: Literature
Hypertrichosis syndromes v0.18 TMEM94 Alison Yeung Classified gene: TMEM94 as Green List (high evidence)
Hypertrichosis syndromes v0.18 TMEM94 Alison Yeung Gene: tmem94 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.17 TMEM94 Alison Yeung Marked gene: TMEM94 as ready
Hypertrichosis syndromes v0.17 TMEM94 Alison Yeung Gene: tmem94 has been classified as Red List (Low Evidence).
Hypertrichosis syndromes v0.17 TMEM94 Alison Yeung gene: TMEM94 was added
gene: TMEM94 was added to Hypertrichosis syndromes. Sources: Literature
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to OMIM# 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF
Review for gene: TMEM94 was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.4198 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Mendeliome v0.4198 CFL2 Zornitza Stark Gene: cfl2 has been classified as Green List (High Evidence).
Mendeliome v0.4198 CFL2 Zornitza Stark Phenotypes for gene: CFL2 were changed from to Nemaline myopathy 7, autosomal recessive, MIM# 610687
Mendeliome v0.4197 CFL2 Zornitza Stark Publications for gene: CFL2 were set to
Mendeliome v0.4196 CFL2 Zornitza Stark Mode of inheritance for gene: CFL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4195 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160903, 22560515, 32697999, 29457652, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.231 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to 28837160; 21436445
Cataract v0.230 TDRD7 Zornitza Stark edited their review of gene: TDRD7: Added comment: PMID: 32420594 (2020) - Knockout mouse model recapitulates human cataracts phenotype and provides supporting functional data.; Changed publications: 28837160, 21436445, 32420594; Changed phenotypes: Cataract 36, 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis
Mendeliome v0.4195 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Mendeliome v0.4195 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Mendeliome v0.4195 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis to Cataract 36, 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Mendeliome v0.4194 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to 28837160; 21436445
Mendeliome v0.4193 TDRD7 Zornitza Stark reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 36, MIM# 613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2949 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Intellectual disability syndromic and non-syndromic v0.2949 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2949 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from to Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2948 PAK3 Zornitza Stark Publications for gene: PAK3 were set to
Intellectual disability syndromic and non-syndromic v0.2947 PAK3 Zornitza Stark Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4193 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Mendeliome v0.4193 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2946 PAK3 Zornitza Stark reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 32050918, 32005903, 31943058, 31843706, 31678216; Phenotypes: Mental retardation, X-linked 30/47, MIM# 300558, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4193 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from to Mental retardation, X-linked 30/47, MIM# 300558; Intellectual disability
Mendeliome v0.4192 PAK3 Zornitza Stark Publications for gene: PAK3 were set to
Mendeliome v0.4191 PAK3 Zornitza Stark Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4190 PAK3 Zornitza Stark reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 32050918, 32005903, 31943058, 31843706, 31678216; Phenotypes: Mental retardation, X-linked 30/47, MIM# 300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4190 CFL2 Arina Puzriakova reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32160286; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4190 TDRD7 Arina Puzriakova reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420594; Phenotypes: Congenital cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2946 CLTC Zornitza Stark Marked gene: CLTC as ready
Intellectual disability syndromic and non-syndromic v0.2946 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2946 CLTC Zornitza Stark Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56, MIM# 617854
Intellectual disability syndromic and non-syndromic v0.2945 CLTC Zornitza Stark Publications for gene: CLTC were set to
Intellectual disability syndromic and non-syndromic v0.2944 CLTC Zornitza Stark Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2943 CLTC Zornitza Stark reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 26822784; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.834 CLTC Zornitza Stark Marked gene: CLTC as ready
Genetic Epilepsy v0.834 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.834 CLTC Zornitza Stark Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56, MIM# 617854
Genetic Epilepsy v0.833 CLTC Zornitza Stark Publications for gene: CLTC were set to
Genetic Epilepsy v0.832 CLTC Zornitza Stark Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.831 CLTC Zornitza Stark reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 26822784; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4190 CLTC Zornitza Stark Marked gene: CLTC as ready
Mendeliome v0.4190 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Mendeliome v0.4190 CLTC Zornitza Stark Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56, MIM# 617854
Mendeliome v0.4189 CLTC Zornitza Stark Publications for gene: CLTC were set to
Mendeliome v0.4188 CLTC Zornitza Stark Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4187 CLTC Zornitza Stark reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100083, 26822784; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.440 CLTC Zornitza Stark Marked gene: CLTC as ready
Microcephaly v0.440 CLTC Zornitza Stark Gene: cltc has been classified as Amber List (Moderate Evidence).
Microcephaly v0.440 CLTC Zornitza Stark Phenotypes for gene: CLTC were changed from to Mental retardation, autosomal dominant 56 (MIM#617854)
Microcephaly v0.439 CLTC Zornitza Stark Publications for gene: CLTC were set to
Microcephaly v0.438 CLTC Zornitza Stark Mode of inheritance for gene: CLTC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.437 CLTC Zornitza Stark Classified gene: CLTC as Amber List (moderate evidence)
Microcephaly v0.437 CLTC Zornitza Stark Gene: cltc has been classified as Amber List (Moderate Evidence).
Microcephaly v0.436 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Microcephaly v0.436 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Mendeliome v0.4187 PAK3 Arina Puzriakova reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31943058; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.436 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Microcephaly v0.436 STAG1 Zornitza Stark Gene: stag1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.436 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
Microcephaly v0.435 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Microcephaly v0.434 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.433 STAG1 Zornitza Stark Classified gene: STAG1 as Amber List (moderate evidence)
Microcephaly v0.433 STAG1 Zornitza Stark Gene: stag1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.432 STAG1 Zornitza Stark reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28119487; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.432 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Microcephaly v0.432 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Microcephaly v0.432 SMC3 Zornitza Stark Classified gene: SMC3 as Green List (high evidence)
Microcephaly v0.432 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Microcephaly v0.431 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM# 610759
Review for gene: SMC3 was set to GREEN
Added comment: Well established gene-disease association, microcephaly is part of the phenotype.
Sources: Expert list
Microcephaly v0.430 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Microcephaly v0.430 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Microcephaly v0.430 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Microcephaly v0.430 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Microcephaly v0.429 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: SMC1A was set to Other
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590
Review for gene: SMC1A was set to GREEN
Added comment: XLD. Well established gene-disease association. Microcephaly is part of the phenotype.
Sources: Expert list
Microcephaly v0.428 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Microcephaly v0.428 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Microcephaly v0.428 SLX4 Zornitza Stark Classified gene: SLX4 as Green List (high evidence)
Microcephaly v0.428 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Microcephaly v0.427 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM#613951
Review for gene: SLX4 was set to GREEN
Added comment: Established gene-disease association, microcephaly is part of the phenotype.
Sources: Expert list
Microcephaly v0.426 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Microcephaly v0.426 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Microcephaly v0.426 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777
Microcephaly v0.425 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Microcephaly v0.424 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Microcephaly v0.424 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Microcephaly v0.424 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Microcephaly v0.424 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Mendeliome v0.4187 SLC1A4 Zornitza Stark reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.423 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Microcephaly v0.422 SLC1A4 Zornitza Stark Tag founder tag was added to gene: SLC1A4.
Microcephaly v0.422 SLC1A4 Zornitza Stark Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.421 SLC1A4 Zornitza Stark reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.421 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM# 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4187 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Mendeliome v0.4187 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Mendeliome v0.4187 RPL10 Zornitza Stark Phenotypes for gene: RPL10 were changed from to Mental retardation, X-linked, syndromic, 35, MIM# 300998
Mendeliome v0.4186 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Mendeliome v0.4185 RPL10 Zornitza Stark Mode of inheritance for gene: RPL10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.4184 RPL10 Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468; Phenotypes: Mental retardation, X-linked, syndromic, 35, MIM# 300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.421 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Microcephaly v0.421 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Microcephaly v0.421 RPL10 Zornitza Stark Classified gene: RPL10 as Green List (high evidence)
Microcephaly v0.421 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Microcephaly v0.420 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788; 25846674; 26290468
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35, MIM# 300998
Review for gene: RPL10 was set to GREEN
Added comment: At least three families reported. Progressive microcephaly, up to -9.6 SD described.
Sources: Expert list
Microcephaly v0.419 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Microcephaly v0.419 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Microcephaly v0.419 RNU4ATAC Zornitza Stark Classified gene: RNU4ATAC as Green List (high evidence)
Microcephaly v0.419 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Microcephaly v0.418 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 21474760; 20301772
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710
Review for gene: RNU4ATAC was set to GREEN
Added comment: Established gene-disease association
Sources: Expert list
Mendeliome v0.4184 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Mendeliome v0.4184 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Mendeliome v0.4184 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# MIM#218330
Mendeliome v0.4183 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Mendeliome v0.4182 IFT122 Zornitza Stark Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4181 IFT122 Zornitza Stark reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 26792575, 28370949, 29037998; Phenotypes: Cranioectodermal dysplasia 1, MIM# MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.42 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses to Susceptibility to mycobacteria and viruses; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Defects of intrinsic and innate immunity v0.41 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed phenotypes: Susceptibility to mycobacteria and viruses, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Disorders of immune dysregulation v0.62 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Disorders of immune dysregulation v0.61 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Mendeliome v0.4181 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Mendeliome v0.4181 RC3H1 Zornitza Stark Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998
Mendeliome v0.4180 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed phenotypes: Relapsing HLH, Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998
Autoinflammatory Disorders v0.94 RC3H1 Zornitza Stark Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998
Autoinflammatory Disorders v0.93 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed phenotypes: Relapsing HLH, Hemophagocytic lymphohistiocytosis, familial, 6 618998
Mendeliome v0.4180 KIAA0319 Zornitza Stark Marked gene: KIAA0319 as ready
Mendeliome v0.4180 KIAA0319 Zornitza Stark Gene: kiaa0319 has been classified as Red List (Low Evidence).
Mendeliome v0.4180 KIAA0319 Zornitza Stark Phenotypes for gene: KIAA0319 were changed from to {Dyslexia, susceptibility to, 2}, MIM#600202
Mendeliome v0.4179 KIAA0319 Zornitza Stark Classified gene: KIAA0319 as Red List (low evidence)
Mendeliome v0.4179 KIAA0319 Zornitza Stark Gene: kiaa0319 has been classified as Red List (Low Evidence).
Mendeliome v0.4178 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Mendeliome v0.4178 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Mendeliome v0.4178 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, MIM# 611523 to Pontocerebellar hypoplasia, type 6, MIM# 611523; early onset cerebellar ataxia
Mendeliome v0.4177 RARS2 Zornitza Stark Publications for gene: RARS2 were set to 17847012; 25809939; 20635367
Mendeliome v0.4176 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Mendeliome v0.4175 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Mendeliome v0.4174 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4173 RARS2 Zornitza Stark edited their review of gene: RARS2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.417 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Microcephaly v0.417 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Microcephaly v0.417 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Microcephaly v0.416 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Microcephaly v0.415 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.414 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4173 RAD21 Zornitza Stark Mode of inheritance for gene: RAD21 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.4172 KIAA0319 Naomi Baker reviewed gene: KIAA0319: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dyslexia, susceptibility to, 2}, MIM#600202; Mode of inheritance: None
Microcephaly v0.414 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Microcephaly v0.414 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Microcephaly v0.414 RAD21 Zornitza Stark Classified gene: RAD21 as Green List (high evidence)
Microcephaly v0.414 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Microcephaly v0.413 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD21 were set to 22633399; 32193685
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, MIM# 614701
Review for gene: RAD21 was set to GREEN
Added comment: Microcephaly reported in around 50% of affected individuals in a recent large series.
Sources: Expert list
Mendeliome v0.4172 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Mendeliome v0.4172 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Mendeliome v0.4172 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Mendeliome v0.4171 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Mendeliome v0.4170 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.412 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Mendeliome v0.4169 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.411 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Microcephaly v0.410 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.409 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4169 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Mendeliome v0.4169 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Mendeliome v0.4169 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Mendeliome v0.4168 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Mendeliome v0.4167 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4166 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.409 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Microcephaly v0.409 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Microcephaly v0.409 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Microcephaly v0.408 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Microcephaly v0.407 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.406 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.230 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Cataract v0.230 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Cataract v0.230 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Cataract v0.230 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Cataract v0.229 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Cataract v0.228 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.227 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.69 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Anophthalmia_Microphthalmia_Coloboma v0.68 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Anophthalmia_Microphthalmia_Coloboma v0.67 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.66 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4166 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Mendeliome v0.4166 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Mendeliome v0.4166 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Mendeliome v0.4166 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Mendeliome v0.4165 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Mendeliome v0.4164 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4163 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.406 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Microcephaly v0.406 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Microcephaly v0.406 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Microcephaly v0.405 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Microcephaly v0.405 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Microcephaly v0.404 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.403 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.11 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Review for gene: PTPN23 was set to GREEN
Added comment: Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.10 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 30778726; 31583274
Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342
Review for gene: PUS7 was set to GREEN
Added comment: 11 individuals from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.
Sources: Expert list
Microcephaly v0.403 PUS7 Zornitza Stark edited their review of gene: PUS7: Changed rating: GREEN
Microcephaly v0.403 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Microcephaly v0.403 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Microcephaly v0.403 PUF60 Zornitza Stark Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM# 615583
Microcephaly v0.402 PUF60 Zornitza Stark Publications for gene: PUF60 were set to
Microcephaly v0.401 PUF60 Zornitza Stark Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.400 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
Deafness_IsolatedAndComplex v0.386 COL9A1 Teresa Zhao Deleted their review
Deafness_IsolatedAndComplex v0.386 COL9A1 Teresa Zhao reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16909383, 2142186, 11565064; Phenotypes: Stickler syndrome, type IV (MIM#614134) AR, ?Multiple epiphyseal dysplasia 6 (MIM#614135) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4163 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Mendeliome v0.4163 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Mendeliome v0.4163 PTPN23 Zornitza Stark Phenotypes for gene: PTPN23 were changed from to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Mendeliome v0.4162 PTPN23 Zornitza Stark Publications for gene: PTPN23 were set to
Mendeliome v0.4161 PTPN23 Zornitza Stark Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4160 PTPN23 Zornitza Stark reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338, 27848944, 25558065; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.400 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Microcephaly v0.400 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Microcephaly v0.400 PTPN23 Zornitza Stark Phenotypes for gene: PTPN23 were changed from to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Microcephaly v0.399 PTPN23 Zornitza Stark Publications for gene: PTPN23 were set to
Microcephaly v0.398 PTPN23 Zornitza Stark Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.397 PTPN23 Zornitza Stark reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338, 27848944, 25558065; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4160 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Mendeliome v0.4160 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Mendeliome v0.4160 PRUNE1 Zornitza Stark Phenotypes for gene: PRUNE1 were changed from to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481
Mendeliome v0.4159 PRUNE1 Zornitza Stark Publications for gene: PRUNE1 were set to
Mendeliome v0.4158 PRUNE1 Zornitza Stark Mode of inheritance for gene: PRUNE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4157 PRUNE1 Zornitza Stark reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 28334956; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.397 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Microcephaly v0.397 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Microcephaly v0.397 PRUNE1 Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence)
Microcephaly v0.397 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Microcephaly v0.396 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRUNE1 were set to 26539891; 28334956
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481
Review for gene: PRUNE1 was set to GREEN
Added comment: 8 unrelated families reported with an autosomal recessive neurodevelopmental, and neurodegenerative disorder characterised by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination
Sources: Expert list
Microcephaly v0.395 PPP1R15B Zornitza Stark Marked gene: PPP1R15B as ready
Microcephaly v0.395 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Microcephaly v0.395 PPP1R15B Zornitza Stark Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Microcephaly v0.394 PPP1R15B Zornitza Stark Publications for gene: PPP1R15B were set to
Microcephaly v0.393 PPP1R15B Zornitza Stark Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.392 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Microcephaly v0.392 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Microcephaly v0.391 PPP1R15B Zornitza Stark reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.391 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Microcephaly v0.391 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Microcephaly v0.391 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Microcephaly v0.390 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.389 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4157 POGZ Zornitza Stark Marked gene: POGZ as ready
Mendeliome v0.4157 POGZ Zornitza Stark Gene: pogz has been classified as Green List (High Evidence).
Mendeliome v0.4157 POGZ Zornitza Stark Phenotypes for gene: POGZ were changed from to White-Sutton syndrome, MIM# 616364
Mendeliome v0.4156 POGZ Zornitza Stark Publications for gene: POGZ were set to
Mendeliome v0.4155 POGZ Zornitza Stark Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4154 POGZ Zornitza Stark reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942287, 26739615; Phenotypes: White-Sutton syndrome, MIM# 616364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.389 POGZ Zornitza Stark Marked gene: POGZ as ready
Microcephaly v0.389 POGZ Zornitza Stark Gene: pogz has been classified as Green List (High Evidence).
Microcephaly v0.389 POGZ Zornitza Stark Phenotypes for gene: POGZ were changed from to White-Sutton syndrome, MIM# 616364
Microcephaly v0.388 POGZ Zornitza Stark Publications for gene: POGZ were set to
Microcephaly v0.387 POGZ Zornitza Stark Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.386 POGZ Zornitza Stark reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942287; Phenotypes: White-Sutton syndrome, MIM# 616364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4154 POC1A Zornitza Stark Marked gene: POC1A as ready
Mendeliome v0.4154 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Mendeliome v0.4154 POC1A Zornitza Stark Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Mendeliome v0.4153 POC1A Zornitza Stark Publications for gene: POC1A were set to
Mendeliome v0.4152 POC1A Zornitza Stark Mode of inheritance for gene: POC1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4151 POC1A Zornitza Stark reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22840364, 22840363, 26374189, 26162852, 26791357; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.386 POC1A Zornitza Stark Marked gene: POC1A as ready
Microcephaly v0.386 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Microcephaly v0.386 POC1A Zornitza Stark Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Microcephaly v0.385 POC1A Zornitza Stark Classified gene: POC1A as Green List (high evidence)
Microcephaly v0.385 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Microcephaly v0.384 POC1A Zornitza Stark edited their review of gene: POC1A: Changed rating: GREEN
Microcephaly v0.384 POC1A Zornitza Stark edited their review of gene: POC1A: Changed phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Microcephaly v0.384 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357
Added comment: SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Over 5 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2943 PLK4 Zornitza Stark Marked gene: PLK4 as ready
Intellectual disability syndromic and non-syndromic v0.2943 PLK4 Zornitza Stark Gene: plk4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2943 PLK4 Zornitza Stark Phenotypes for gene: PLK4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
Intellectual disability syndromic and non-syndromic v0.2942 PLK4 Zornitza Stark Publications for gene: PLK4 were set to
Intellectual disability syndromic and non-syndromic v0.2941 PLK4 Zornitza Stark Mode of inheritance for gene: PLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2940 PLK4 Zornitza Stark reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.75 PLK4 Zornitza Stark Marked gene: PLK4 as ready
Syndromic Retinopathy v0.75 PLK4 Zornitza Stark Gene: plk4 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.75 PLK4 Zornitza Stark Phenotypes for gene: PLK4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
Syndromic Retinopathy v0.74 PLK4 Zornitza Stark Publications for gene: PLK4 were set to
Syndromic Retinopathy v0.73 PLK4 Zornitza Stark Mode of inheritance for gene: PLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.72 PLK4 Zornitza Stark reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4151 PLK4 Zornitza Stark Marked gene: PLK4 as ready