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Intellectual disability v3.1018 INPP4A Zornitza Stark reviewed gene: INPP4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31978615, 31938306, 25338135, 20011524; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v1.30 RHBDF1 Zornitza Stark gene: RHBDF1 was added
gene: RHBDF1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: RHBDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF1 were set to 32870709
Phenotypes for gene: RHBDF1 were set to Dilated cardiomyopathy
Review for gene: RHBDF1 was set to AMBER
Added comment: Three families reported with homozygous variants in this gene and onset of DCM in infancy/childhood. Two of the families had the same truncating variant, indicative of founder effect, and one family had a homozygous missense variant.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.30 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Pulmonary arterial hypertension v2.10 AQP1 Ivone Leong Phenotypes for gene: AQP1 were changed from Heritable pulmonary arterial hypertension; HPAH to Heritable pulmonary arterial hypertension, HPAH, MONDO:0017148
Dilated and arrhythmogenic cardiomyopathy v1.19 FLII Ivone Leong Classified gene: FLII as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.19 FLII Ivone Leong Gene: flii has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.18 FLII Ivone Leong gene: FLII was added
gene: FLII was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: FLII.
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy, MONDO:0005021
Review for gene: FLII was set to GREEN
Added comment: This gene is also on Cardiomyopathies - including childhood onset (Version 1.30).

"Two unrelated families reported with homozygous missense variants in PMID 32870709. Geng (2021): Shown to affect sarcomere size in Drosophila model. FliI knockdown resulted in disorganised myofibrils and increase filamentous actin. Campbell (2002): Hom mice - lethal, het - normal. K/O mouse model of related genes have cytoskeletal actin alterations. No survivors to observed cardiac phenotypes. We are aware of a third family ascertained through our laboratory. Sources: Literature
Zornitza Stark (Australian Genomics), 15 Apr 2021"

This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.30 FLII Ivone Leong Classified gene: FLII as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.30 FLII Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.30 FLII Ivone Leong Gene: flii has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.29 FLII Ivone Leong Tag Q2_21_rating tag was added to gene: FLII.
Paediatric or syndromic cardiomyopathy v1.29 FLII Ivone Leong Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
Paediatric disorders - additional genes v1.86 PLD1 Ivone Leong commented on gene: PLD1: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric disorders - additional genes v1.86 PLD1 Ivone Leong Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental to Cardiac valvular defect, developmental, OMIM:212093
Paediatric disorders - additional genes v1.85 PLD1 Ivone Leong Added comment: Comment on publications: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%). Sources: Literature
Zornitza Stark (Australian Genomics), 15 Apr 2021
Paediatric disorders - additional genes v1.85 PLD1 Ivone Leong Publications for gene: PLD1 were set to 27799408
Paediatric disorders - additional genes v1.84 PLD1 Ivone Leong Tag Q2_21_rating tag was added to gene: PLD1.
Paediatric or syndromic cardiomyopathy v1.28 PLD1 Ivone Leong Classified gene: PLD1 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.28 PLD1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.28 PLD1 Ivone Leong Gene: pld1 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.27 PLD1 Ivone Leong Tag Q2_21_rating tag was added to gene: PLD1.
Paediatric or syndromic cardiomyopathy v1.27 PLD1 Ivone Leong Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy to Cardiac valvular defect, developmental, OMIM:212093; neonatal cardiomyopathy
Dilated and arrhythmogenic cardiomyopathy v1.17 RPL3L Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.17 RPL3L Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.16 RPL3L Ivone Leong gene: RPL3L was added
gene: RPL3L was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: RPL3L.
Mode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL3L were set to 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Review for gene: RPL3L was set to GREEN
Added comment: This gene is also present on the Cardiomyopathies - including childhood onset (Version 1.26) panel.

Review by Zornitza Stark:
"PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype."

This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.26 RPL3L Ivone Leong Classified gene: RPL3L as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v1.26 RPL3L Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Paediatric or syndromic cardiomyopathy v1.26 RPL3L Ivone Leong Gene: rpl3l has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v1.25 RPL3L Ivone Leong Tag Q2_21_rating tag was added to gene: RPL3L.
Paediatric or syndromic cardiomyopathy v1.25 RPL3L Ivone Leong Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Neonatal dilated cardiomyopathy; dilated cardiomyopathy, MONDO:0005021
Paediatric or syndromic cardiomyopathy v1.24 MIB1 Ivone Leong commented on gene: MIB1: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene has been tagged and will be submitted to the GMS specialist group for review.
Paediatric or syndromic cardiomyopathy v1.24 MIB1 Ivone Leong Phenotypes for gene: MIB1 were changed from Left ventricular noncompaction 7 to Left ventricular noncompaction 7, OMIM:615092
Paediatric or syndromic cardiomyopathy v1.23 MIB1 Ivone Leong Publications for gene: MIB1 were set to
Paediatric or syndromic cardiomyopathy v1.22 MIB1 Ivone Leong Tag Q2_21_rating tag was added to gene: MIB1.
Tag Q2_21_NHS_review tag was added to gene: MIB1.
Paediatric or syndromic cardiomyopathy v1.22 COX6B1 Ivone Leong commented on gene: COX6B1: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. It is recommended that this gene should be demoted to Amber/Red at the next review.
Paediatric or syndromic cardiomyopathy v1.22 COX6B1 Ivone Leong Tag Q2_21_rating tag was added to gene: COX6B1.
Paediatric or syndromic cardiomyopathy v1.22 COX14 Ivone Leong Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, OMIM:220110
Paediatric or syndromic cardiomyopathy v1.21 COX14 Ivone Leong Tag Q2_21_rating tag was added to gene: COX14.
Paediatric or syndromic cardiomyopathy v1.21 COX14 Ivone Leong commented on gene: COX14: This gene is associated with a phenotype in OMIM and Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. It is recommended that this gene should be demoted to Amber/Red at the next review.
Paediatric or syndromic cardiomyopathy v1.21 COX14 Ivone Leong Publications for gene: COX14 were set to
Ataxia and cerebellar anomalies - narrow panel v2.110 MSTO1 Sarah Leigh Tag Q2_21_rating tag was added to gene: MSTO1.
Ataxia and cerebellar anomalies - narrow panel v2.110 MSTO1 Sarah Leigh edited their review of gene: MSTO1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in five unrelated cases of recessive Myopathy, mitochondrial, and ataxia and one variant reported in dominant Myopathy, mitochondrial, and ataxia in one family, together with supportive functional studies (PMID 28554942).; Changed rating: GREEN
Ataxia and cerebellar anomalies - narrow panel v2.110 MSTO1 Sarah Leigh Classified gene: MSTO1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.110 MSTO1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.110 MSTO1 Sarah Leigh Gene: msto1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.24 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Hereditary ataxia with onset in adulthood v2.40 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Mitochondrial myopathy and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Likely inborn error of metabolism v2.111 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Possible mitochondrial disorder - nuclear genes v1.40 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Congenital muscular dystrophy v2.7 MSTO1 Sarah Leigh changed review comment from: Comment on phenotypes: Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Congenital muscular dystrophy with Brain involvment; to: Comment on phenotypes:
Congenital muscular dystrophy with Brain involvment
Congenital muscular dystrophy v2.7 MSTO1 Sarah Leigh Added comment: Comment on phenotypes: Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Congenital muscular dystrophy with Brain involvment
Congenital muscular dystrophy v2.7 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Congenital muscular dystrophy with Brain involvment; Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Ataxia and cerebellar anomalies - narrow panel v2.109 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, MIM# 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Monogenic hearing loss v2.160 LOXHD1 Arina Puzriakova Publications for gene: LOXHD1 were set to PMID:16936105; 19732867; 21465660; 22341973
Monogenic hearing loss v2.159 LOXHD1 Arina Puzriakova Phenotypes for gene: LOXHD1 were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 77, 613079; hearing loss to Deafness, autosomal recessive 77, OMIM:613079
Intellectual disability v3.1018 LOXHD1 Arina Puzriakova Mode of inheritance for gene: LOXHD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.323 KCNH1 Arina Puzriakova Classified gene: KCNH1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.323 KCNH1 Arina Puzriakova Added comment: Comment on list classification: Sufficient number of unrelated cases (>3) of epilepsy in patients with variants in the KCNH1 gene. Inclusion on this panel would be of particular benefit to individuals without typical gingival and/or nail anomalies and only mild developmental delays - who may not be tested under other panels (e.g. Limb disorders, ID) and thus may otherwise be missed in analysis.
Early onset or syndromic epilepsy v2.323 KCNH1 Arina Puzriakova Gene: kcnh1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.322 KCNH1 Arina Puzriakova gene: KCNH1 was added
gene: KCNH1 was added to Genetic epilepsy syndromes. Sources: Literature
Q2_21_rating tags were added to gene: KCNH1.
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH1 were set to 18203178; 20009591; 20683999; 21626675; 23994350; 25420144; 33811134
Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
Review for gene: KCNH1 was set to GREEN
Added comment: Well-established cause of Temple-Baraitser syndrome (MIM #611816) and Zimmermann-Laband syndrome (MIM #135500) characterised by ID with or without epilepsy, hypertrichosis and distinctive features such as gingival hyperplasia and nail hypoplasia/aplasia. Overall, sufficient number of cases with epilepsy to rate Green on this panel (PMIDs: 18203178; 20009591; 20683999; 21626675; 23994350; 25420144)

- PMID: 33811134 (2021) - 7 patients with de novo KCNH1 variants presenting mild/moderate to severe DD/ID, but without any distinctive features of TBS/ZLS such as gingival hyperplasia and nail anomalies. Four patients had epilepsy starting in infancy, with generalised tonic–clonic (4/4), myoclonic (2/4), focal motor (2/4) and tonic (1/4) seizures. One patient experienced status epilepticus. Epilepsy was pharmacoresponsive in all individuals. This study provides evidence of KCNH-related encephalopathy even without the presence of other extra-neurological symptoms that are typically associated with pathogenic variants in this gene.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.15 NRAP Zornitza Stark reviewed gene: NRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33534821, 30384889, 28611399, 32870709; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 MPEG1 Zornitza Stark gene: MPEG1 was added
gene: MPEG1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MPEG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPEG1 were set to 33224153; 33692780; 28422754
Phenotypes for gene: MPEG1 were set to Immunodeficiency 77, MIM# 619223
Review for gene: MPEG1 was set to GREEN
gene: MPEG1 was marked as current diagnostic
Added comment: Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus.

Four individuals reported, functional data, including animal model.
Sources: Literature
Ichthyosis and erythrokeratoderma v1.60 ALDH1L2 Zornitza Stark gene: ALDH1L2 was added
gene: ALDH1L2 was added to Ichthyosis and erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ALDH1L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1L2 were set to 31341639; 33168096
Phenotypes for gene: ALDH1L2 were set to pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks
Review for gene: ALDH1L2 was set to RED
Added comment: Individual reported with bialleleic ALDH1L2 variants (non-canonical splice and a frameshift mutation), who also has a de novo hemizygous RPS6KA3 frameshift mutation. Authors state that not all features of the individual could be explained by the RPS6KA3 variant, and that consideration of Coffin-Lowry sysndrome was only made after identification of the RPS6KA3 variant. Therefore individual has there is a blended phenotype of Coffin–Lowry syndrome and Sjögren–Larsson syndrome. From functional studies authors propose that the ALDH1L2 loss induces mitochondrial dysfunction due to reduced NADPH and increased oxidative stress (PMID: 31341639). Knockout mouse model was viable and did not show an apparent phenotype, however metabolomic analysis showed vastly changed metabotypes in the liver and plasma in these mice suggesting channeling of fatty acids away from β-oxidation. Authors therefore postulate that the role of ALDH1L2 in the lipid metabolism explains why the loss of this enzyme is associated with neuro-cutaneous disease.
Sources: Literature
Intellectual disability v3.1017 KCNH1 Arina Puzriakova Phenotypes for gene: KCNH1 were changed from Temple-Baraitser syndrome, OMIM:611816; Temple-Baraitser syndrome, MONDO:0012735; Zimmermann-Laband syndrome 1, OMIM:135500; Zimmermann-Laband syndrome 1, MONDO:0024526 to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
Intellectual disability v3.1016 KCNH1 Arina Puzriakova Publications for gene: KCNH1 were set to 25420144; 33594261
Clefting v2.24 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1015 KCNH1 Arina Puzriakova edited their review of gene: KCNH1: Changed phenotypes: Intellectual disability, Encephalopathy without features of TBS/ZLS
Intellectual disability v3.1015 KCNH1 Arina Puzriakova reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.177 FAM57B Zornitza Stark reviewed gene: FAM57B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33077892; Phenotypes: Cone–rod dystrophy, Maculopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v1.20 PDLIM3 Ivone Leong Publications for gene: PDLIM3 were set to 25163546
Paediatric or syndromic cardiomyopathy v1.19 PDLIM3 Ivone Leong Tag Q2_21_rating tag was added to gene: PDLIM3.
Paediatric or syndromic cardiomyopathy v1.19 PDLIM3 Ivone Leong edited their review of gene: PDLIM3: Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Variants in this gene seem to confer susceptibility to DCM but may not directly cause it (PMID: 17254821; 31424159). Therefore, this gene should be downgraded from Green to Amber/Red.; Changed publications: 17254821, 31424159
Paediatric or syndromic cardiomyopathy v1.19 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 32870709
Phenotypes for gene: FLII were set to Dilated cardiomyopathy
Review for gene: FLII was set to GREEN
Added comment: Two unrelated families reported with homozygous missense variants in PMID 32870709.

Geng (2021): Shown to affect sarcomere size in Drosophila model. FliI knockdown resulted in disorganised myofibrils and increase filamentous actin.
Campbell (2002): Hom mice - lethal, het - normal. K/O mouse model of related genes have cytoskeletal actin alterations. No survivors to observed cardiac phenotypes.

We are aware of a third family ascertained through our laboratory.
Sources: Literature
Familial pulmonary fibrosis v1.13 ZCCHC8 Zornitza Stark gene: ZCCHC8 was added
gene: ZCCHC8 was added to Familial pulmonary fibrosis. Sources: Literature
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Literature
Intellectual disability v3.1015 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Paediatric or syndromic cardiomyopathy v1.19 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Cardiomyopathies - including childhood onset. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408; 33645542
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093; neonatal cardiomyopathy
Review for gene: PLD1 was set to GREEN
gene: PLD1 was marked as current diagnostic
Added comment: PMID 33645542: 31 individuals from 20 families reported, presenting predominantly with congenital cardiac valve defects and some with neonatal cardiomyopathy. p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%).
Sources: Literature
Dilated Cardiomyopathy and conduction defects v1.68 RAB3GAP2 Ivone Leong Classified gene: RAB3GAP2 as Red List (low evidence)
Dilated Cardiomyopathy and conduction defects v1.68 RAB3GAP2 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Red. There is no evidence to support this gene-disease association.
Dilated Cardiomyopathy and conduction defects v1.68 RAB3GAP2 Ivone Leong Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v2.20 JPH2 Ivone Leong commented on gene: JPH2: This gene has been tagged and will be submitted for review by the GMS expert group.
Hypertrophic cardiomyopathy v2.20 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17 (613873) to Cardiomyopathy, hypertrophic, 17, OMIM:613873
Hypertrophic cardiomyopathy v2.19 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457; 30681346; 23973696; 26869393; 28393127; 30235249
Hypertrophic cardiomyopathy v2.19 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457; 30681346
Hypertrophic cardiomyopathy v2.18 JPH2 Ivone Leong Tag Q2_21_expert_review tag was added to gene: JPH2.
Dilated and arrhythmogenic cardiomyopathy v1.15 TBX5 Ivone Leong Classified gene: TBX5 as Amber List (moderate evidence)
Dilated and arrhythmogenic cardiomyopathy v1.15 TBX5 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-disease association. This gene should be rated Green at the next review.
Dilated and arrhythmogenic cardiomyopathy v1.15 TBX5 Ivone Leong Gene: tbx5 has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v1.14 TBX5 Ivone Leong Tag Q2_21_rating tag was added to gene: TBX5.
Dilated and arrhythmogenic cardiomyopathy v1.14 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome, 142900; Dilated cardiomyopathy to Holt-Oram syndrome, OMIM:142900; Dilated cardiomyopathy
Ataxia and cerebellar anomalies - narrow panel v2.108 IRF2BPL Sarah Leigh Classified gene: IRF2BPL as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.108 IRF2BPL Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.108 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.90 IRF2BPL Sarah Leigh Classified gene: IRF2BPL as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.90 IRF2BPL Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.90 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.89 IRF2BPL Sarah Leigh Tag Q2_21_rating tag was added to gene: IRF2BPL.
Childhood onset dystonia, chorea or related movement disorder v1.89 IRF2BPL Sarah Leigh reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.89 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Childhood onset dystonia, chorea or related movement disorder v1.88 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to 30057031; 30166628
Ataxia and cerebellar anomalies - narrow panel v2.107 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to 30057031; 30166628
Early onset or syndromic epilepsy v2.321 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to 30057031; 28135719; 25363768
Hereditary ataxia with onset in adulthood v2.39 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to
Intellectual disability v3.1015 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Global developmental delay, Developmental regression, Seizures, Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Hereditary ataxia with onset in adulthood v2.38 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Early onset or syndromic epilepsy v2.320 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Arthrogryposis v3.91 STAC3 Arina Puzriakova Publications for gene: STAC3 were set to 23736855
Ataxia and cerebellar anomalies - narrow panel v2.106 IRF2BPL Sarah Leigh Publications for gene: IRF2BPL were set to 30057031
Ataxia and cerebellar anomalies - narrow panel v2.105 IRF2BPL Sarah Leigh reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Laterality disorders and isomerism v1.43 NODAL Ivone Leong Publications for gene: NODAL were set to 19064609
Arthrogryposis v3.90 UNC50 Arina Puzriakova Classified gene: UNC50 as Red List (low evidence)
Arthrogryposis v3.90 UNC50 Arina Puzriakova Added comment: Comment on list classification: Rating Red awaiting further evidence. Only a single variant described in 2 individuals (PMIDs: 29016857; 33820833). Additional cases with different variants or strong functional support required to validate pathogenicity.
Arthrogryposis v3.90 UNC50 Arina Puzriakova Gene: unc50 has been classified as Red List (Low Evidence).
Arthrogryposis v3.89 UNC50 Arina Puzriakova Classified gene: UNC50 as Amber List (moderate evidence)
Arthrogryposis v3.89 UNC50 Arina Puzriakova Gene: unc50 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.105 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Arthrogryposis v3.88 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype.

- PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle.

- PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

-- Note: it isn't definitively clear whether these are different individuals. Both are singleton males born to consanguineous parents, with the same variant and similar phenotype. Also both infants died at 28 w.g. However, the 2021 paper (PMID:33820833) states their patient was selected from a cohort of cases without a molecular diagnosis and indicate the UNC50 gene had already previously been identified in relation to this phenotype, highlighting the earlier paper (PMID:29016857). There is also no mention of tetra ventricular dilation in the first case, so it is likely that these do represent distinct individuals. Additional cases needed to provide clarity.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v2.104 IRF2BPL Sarah Leigh Tag Q2_21_rating tag was added to gene: IRF2BPL.
Ataxia and cerebellar anomalies - narrow panel v2.104 FBXL4 Sarah Leigh edited their review of gene: FBXL4: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in five unrelated cases.; Changed rating: GREEN
Ataxia and cerebellar anomalies - narrow panel v2.104 FBXL4 Sarah Leigh Tag Q2_21_rating tag was added to gene: FBXL4.
Likely inborn error of metabolism v2.110 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.;Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism v2.110 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Ataxia and cerebellar anomalies - narrow panel v2.104 FBXL4 Sarah Leigh Classified gene: FBXL4 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.104 FBXL4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.104 FBXL4 Sarah Leigh Gene: fbxl4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.319 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: Seizures
Early onset or syndromic epilepsy v2.319 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Seizures to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Intellectual disability v3.1014 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Intellectual disability v3.1014 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Mitochondrial disorders v2.23 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471;fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
Mitochondrial disorders v2.23 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle. to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong commented on gene: DNAAF2: This gene is associated with a relevant disease in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong Tag Q2_21_rating tag was added to gene: DNAAF2.
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong Added comment: Comment on publications: PMID: 32638265 is an additional case in a non-consanguineous Han Chinese family. Proband has compound heterozygous variants in this gene and exhibited typical PCD-related clinical symptoms, including chronic otitis media, and recurrent pneumonia since birth. The proband also had chronic ethmoid and maxillary sinusitis, ring-shaped or ductal opacities throughout both lungs, bilateral lung bronchiectasis, and situs inversus totalis in the heart, liver, and colon.
Laterality disorders and isomerism v1.42 DNAAF2 Ivone Leong Publications for gene: DNAAF2 were set to 19052621; 31107948
Ataxia and cerebellar anomalies - narrow panel v2.103 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
White matter disorders and cerebral calcification - narrow panel v1.38 FA2H Sarah Leigh edited their review of gene: FA2H: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least eight variants reported in seven unrelated cases.; Changed rating: GREEN
White matter disorders and cerebral calcification - narrow panel v1.38 FA2H Sarah Leigh Tag Q2_21_rating tag was added to gene: FA2H.
White matter disorders and cerebral calcification - narrow panel v1.38 FA2H Sarah Leigh Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive OMIM:612319; hereditary spastic paraplegia 35 MONDO:0012866
Ataxia and cerebellar anomalies - narrow panel v2.102 FA2H Sarah Leigh Publications for gene: FA2H were set to 31135052
White matter disorders and cerebral calcification - narrow panel v1.37 FA2H Sarah Leigh Publications for gene: FA2H were set to MIM#612319
White matter disorders and cerebral calcification - narrow panel v1.36 FA2H Sarah Leigh Classified gene: FA2H as Amber List (moderate evidence)
White matter disorders and cerebral calcification - narrow panel v1.36 FA2H Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
White matter disorders and cerebral calcification - narrow panel v1.36 FA2H Sarah Leigh Gene: fa2h has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.101 FA2H Sarah Leigh Tag Q2_21_rating tag was added to gene: FA2H.
Ataxia and cerebellar anomalies - narrow panel v2.101 FA2H Sarah Leigh edited their review of gene: FA2H: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least eight variants reported in seven unrelated cases.; Changed rating: GREEN
Ataxia and cerebellar anomalies - narrow panel v2.101 FA2H Sarah Leigh Classified gene: FA2H as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.101 FA2H Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.101 FA2H Sarah Leigh Gene: fa2h has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.100 FA2H Sarah Leigh Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive MIM#612319 to Spastic paraplegia 35, autosomal recessive OMIM:612319; hereditary spastic paraplegia 35 MONDO:0012866
Ataxia and cerebellar anomalies - narrow panel v2.99 EBF3 Sarah Leigh edited their review of gene: EBF3: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 10 variants reported in at least 11 unrelated cases.; Changed rating: GREEN
Arthrogryposis v3.87 MAGEL2 Arina Puzriakova Publications for gene: MAGEL2 were set to 26365340; 27195816; 31504653; 29359444; 24076603
Arthrogryposis v3.86 MAGEL2 Arina Puzriakova Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Prader-Willi-Like syndrome to Schaaf-Yang syndrome, OMIM:615547; Prader-Willi-Like syndrome
Intellectual disability v3.1013 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia, and delayed development syndrome 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Hereditary ataxia with onset in adulthood v2.37 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia and delayed development syndrome, 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
DDG2P v2.25 EBF3 Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism
DDG2P v2.25 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Arthrogryposis v3.85 LMOD3 Arina Puzriakova Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10 616165 to Nemaline myopathy 10, OMIM:616165
Fetal anomalies v1.641 EBF3 Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism
Fetal anomalies v1.641 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Arthrogryposis v3.84 LMOD3 Arina Puzriakova Publications for gene: LMOD3 were set to 25250574
Arthrogryposis v3.83 LGI4 Arina Puzriakova Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Arthrogryposis v3.82 LGI4 Arina Puzriakova Publications for gene: LGI4 were set to 28318499; 15857855; 16341215
Arthrogryposis v3.81 GLDN Arina Puzriakova Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11 617194 to Lethal congenital contracture syndrome 11, OMIM:617194
Arthrogryposis v3.80 GLDN Arina Puzriakova Publications for gene: GLDN were set to 27616481
Arthrogryposis v3.79 CNTNAP1 Arina Puzriakova Phenotypes for gene: CNTNAP1 were changed from Lethal congenital contracture syndrome 7 616286 to Lethal congenital contracture syndrome 7, OMIM:616286
Arthrogryposis v3.78 CNTNAP1 Arina Puzriakova Publications for gene: CNTNAP1 were set to 24319099
Ataxia and cerebellar anomalies - narrow panel v2.99 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Arthrogryposis v3.77 ADCY6 Arina Puzriakova Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Arthrogryposis v3.76 ADCY6 Arina Puzriakova edited their review of gene: ADCY6: Added comment: - PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.; Changed rating: GREEN; Changed publications: 24319099, 26257172, 31846058, 33820833; Changed phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v2.98 EBF3 Sarah Leigh Classified gene: EBF3 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.98 EBF3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.98 EBF3 Sarah Leigh Gene: ebf3 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.97 EBF3 Sarah Leigh Tag Q2_21_rating tag was added to gene: EBF3.
Ataxia and cerebellar anomalies - narrow panel v2.97 DOCK3 Sarah Leigh edited their review of gene: DOCK3: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least seven variants reported in at least five unrelated cases.; Changed rating: GREEN
Intellectual disability v3.1012 DOCK3 Sarah Leigh Phenotypes for gene: DOCK3 were changed from Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292; neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Ataxia and cerebellar anomalies - narrow panel v2.97 DOCK3 Sarah Leigh Phenotypes for gene: DOCK3 were changed from Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292; neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Ataxia and cerebellar anomalies - narrow panel v2.96 DOCK3 Sarah Leigh Tag Q2_21_rating tag was added to gene: DOCK3.
Ataxia and cerebellar anomalies - narrow panel v2.96 DOCK3 Sarah Leigh Classified gene: DOCK3 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.96 DOCK3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.96 DOCK3 Sarah Leigh Gene: dock3 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.95 DKC1 Sarah Leigh reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v2.95 DKC1 Sarah Leigh Publications for gene: DKC1 were set to 9590285; 9886310; 10921354; 33734615; 10583221
Ataxia and cerebellar anomalies - narrow panel v2.94 DKC1 Sarah Leigh Publications for gene: DKC1 were set to 9590285; 9886310; 10921354
Holoprosencephaly - NOT chromosomal v2.16 PLCH1 Arina Puzriakova Classified gene: PLCH1 as Amber List (moderate evidence)
Holoprosencephaly - NOT chromosomal v2.16 PLCH1 Arina Puzriakova Added comment: Comment on list classification: Two unrelated families reported in PMID:33820834 with a holoprosencephaly spectrum phenotype associated with biallelic PLCH1 variants. Rating Amber, awaiting further cases.
Holoprosencephaly - NOT chromosomal v2.16 PLCH1 Arina Puzriakova Gene: plch1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly - NOT chromosomal v2.15 PLCH1 Arina Puzriakova gene: PLCH1 was added
gene: PLCH1 was added to Holoprosencephaly. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Severe developmental delay; Brain malformations; Holoprosencephaly spectrum
Review for gene: PLCH1 was set to AMBER
Added comment: PLCH1 is currently not associated with any phenotype in OMIM (last edited on 16/06/2009) or Gene2Phenotype.

- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease.

Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v2.93 DKC1 Sarah Leigh Phenotypes for gene: DKC1 were changed from X-linked dyskeratosis congenita to Dyskeratosis congenita, X-linked OMIM:305000; dyskeratosis congenita, X-linked MONDO:0010584
Ataxia and cerebellar anomalies - narrow panel v2.92 DKC1 Sarah Leigh Publications for gene: DKC1 were set to 9590285; 9886310
Adult onset hereditary spastic paraplegia v1.17 CYP2U1 Sarah Leigh Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive, 615030 to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015
Ataxia and cerebellar anomalies - narrow panel v2.91 CYP2U1 Sarah Leigh Added comment: Comment on phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Ataxia and cerebellar anomalies - narrow panel v2.91 CYP2U1 Sarah Leigh Phenotypes for gene: CYP2U1 were changed from Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015
Ataxia and cerebellar anomalies - narrow panel v2.90 CYP2U1 Sarah Leigh Publications for gene: CYP2U1 were set to
Sporadic aniridia v2.14 PAX6 Arina Puzriakova Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642; 32467297
Adult solid tumours cancer susceptibility v2.9 PALB2 Arina Puzriakova Publications for gene: PALB2 were set to
Early onset or syndromic epilepsy v2.318 KCNQ2 Arina Puzriakova Publications for gene: KCNQ2 were set to Dedek et al (2003) Epilepsy Res 54: 21-27
Intellectual disability v3.1011 KCNQ2 Arina Puzriakova Publications for gene: KCNQ2 were set to
Hereditary neuropathy or pain disorder v1.25 VWA1 Ian Berry gene: VWA1 was added
gene: VWA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to PMID: 33559681
Phenotypes for gene: VWA1 were set to axonal hereditary motor neuropathy; myopathy
Penetrance for gene: VWA1 were set to unknown
Review for gene: VWA1 was set to GREEN
gene: VWA1 was marked as current diagnostic
Added comment: 17 individuals from 15 families, recurrent 10bp repeat allele causative in all patients. Detected in 100K so clearly tractable by WGS.
Sources: NHS GMS
Early onset or syndromic epilepsy v2.317 KCNQ2 Arina Puzriakova Phenotypes for gene: KCNQ2 were changed from BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1); EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7); Epileptic encephalopathy, early infantile, 7; Myokymia; Seizures, benign neonatal, 1 to Developmental and epileptic encephalopathy 7, OMIM:613720; Seizures, benign neonatal, 1, OMIM:121200
Intellectual disability v3.1010 KCNQ2 Arina Puzriakova Phenotypes for gene: KCNQ2 were changed from Seizures, benign neonatal, 1, 121200Myokymia, 121200Epileptic encephalopathy, early infantile, 7, 613720; BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1) to Developmental and epileptic encephalopathy 7, OMIM:613720
Sporadic aniridia v2.13 PAX6 Arina Puzriakova Publications for gene: PAX6 were set to 1302030; 8111379; 7951315; 7666404; 7550230; 19876904; 9931324; 12552561; 11826019; 11553050; 17148041; 17595013; 17406642
Inherited pancreatic cancer v1.18 CDKN2A Arina Puzriakova Publications for gene: CDKN2A were set to 30558719
Pigmentary skin disorders v1.10 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2; Melanoma susceptibility to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Adult solid tumours cancer susceptibility v2.8 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Familial melanoma v1.10 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Ataxia and cerebellar anomalies - narrow panel v2.89 CSTB Sarah Leigh Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698
Childhood onset dystonia, chorea or related movement disorder v1.87 CSTB Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CSTB.
Childhood onset dystonia, chorea or related movement disorder v1.87 CSTB Sarah Leigh Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698
Ataxia and cerebellar anomalies - narrow panel v2.88 CSTB_CCCCGCCCCGCG Sarah Leigh Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800; Unverricht-Lundborg syndrome MONDO:0009698
Ataxia and cerebellar anomalies - narrow panel v2.87 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Ataxia and cerebellar anomalies - narrow panel v2.87 CSTB Sarah Leigh edited their review of gene: CSTB: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least four unrelated cases. Some cases are compound heterozygous with STR: CSTB_CCCCGCCCCGCG; Changed rating: GREEN
Laterality disorders and isomerism v1.41 NKX2-5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ventricular septal defect 3, OMIM:614432;Tetralogy of Fallot, OMIM:187500
Laterality disorders and isomerism v1.41 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500 to visceral heterotaxy, MONDO:0018677
Laterality disorders and isomerism v1.40 MYH6 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial septal defect 3, OMIM:614089
Laterality disorders and isomerism v1.40 MYH6 Ivone Leong Phenotypes for gene: MYH6 were changed from Atrial septal defect 3, OMIM:614089 to visceral heterotaxy, MONDO:0018677
Laterality disorders and isomerism v1.39 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from to Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500
Laterality disorders and isomerism v1.38 MYH6 Ivone Leong Classified gene: MYH6 as Red List (low evidence)
Laterality disorders and isomerism v1.38 MYH6 Ivone Leong Added comment: Comment on list classification: Downgraded from Amber to Red. There is currently no evidence to support that MYH6 is associated with heterotaxy/laterality defects.
Laterality disorders and isomerism v1.38 MYH6 Ivone Leong Gene: myh6 has been classified as Red List (Low Evidence).
Laterality disorders and isomerism v1.37 MYH6 Ivone Leong Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3, OMIM:614089
Laterality disorders and isomerism v1.36 MYH6 Ivone Leong Publications for gene: MYH6 were set to
Laterality disorders and isomerism v1.35 MYH6 Ivone Leong Mode of inheritance for gene: MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v1.34 DNAAF2 Ivone Leong Phenotypes for gene: DNAAF2 were changed from Ciliary dyskinesia, primary, 10, 612518 to Ciliary dyskinesia, primary, 10, OMIM:612518
Laterality disorders and isomerism v1.33 DNAAF2 Ivone Leong Publications for gene: DNAAF2 were set to 19052621
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong Tag Q2_21_expert_review tag was added to gene: CFC1.
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong Tag Q2_21_rating tag was added to gene: CFC1.
Laterality disorders and isomerism v1.32 CFC1 Ivone Leong Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, 605376 to Heterotaxy, visceral, 2, autosomal, OMIM:605376
Laterality disorders and isomerism v1.31 CFC1 Ivone Leong Publications for gene: CFC1 were set to 11062482; 25423076
Laterality disorders and isomerism v1.30 CCDC65 Ivone Leong commented on gene: CCDC65
Ataxia and cerebellar anomalies - narrow panel v2.87 CSTB_CCCCGCCCCGCG Sarah Leigh Publications for STR: CSTB_CCCCGCCCCGCG were set to
Ataxia and cerebellar anomalies - narrow panel v2.86 CSTB Sarah Leigh Publications for gene: CSTB were set to
Ataxia and cerebellar anomalies - narrow panel v2.85 CSTB Sarah Leigh Classified gene: CSTB as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.85 CSTB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.85 CSTB Sarah Leigh Gene: cstb has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.84 CSTB Sarah Leigh Tag Q2_21_rating tag was added to gene: CSTB.
Laterality disorders and isomerism v1.30 CCDC65 Ivone Leong Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, OMIM:615504
Laterality disorders and isomerism v1.29 CCDC65 Ivone Leong Publications for gene: CCDC65 were set to
Laterality disorders and isomerism v1.28 CCDC65 Ivone Leong Mode of inheritance for gene: CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v2.84 COA7 Sarah Leigh edited their review of gene: COA7: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in at least five unrelated cases.; Changed rating: GREEN
White matter disorders and cerebral calcification - narrow panel v1.35 COA7 Sarah Leigh edited their review of gene: COA7: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in at least five unrelated cases.; Changed rating: GREEN
Ataxia and cerebellar anomalies - narrow panel v2.84 COA7 Sarah Leigh Tag Q2_21_rating tag was added to gene: COA7.
White matter disorders and cerebral calcification - narrow panel v1.35 COA7 Sarah Leigh Tag Q2_21_rating tag was added to gene: COA7.
White matter disorders and cerebral calcification - narrow panel v1.35 COA7 Sarah Leigh Classified gene: COA7 as Amber List (moderate evidence)
White matter disorders and cerebral calcification - narrow panel v1.35 COA7 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
White matter disorders and cerebral calcification - narrow panel v1.35 COA7 Sarah Leigh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.84 COA7 Sarah Leigh Classified gene: COA7 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.84 COA7 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.84 COA7 Sarah Leigh Gene: coa7 has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - narrow panel v1.34 COA7 Sarah Leigh Publications for gene: COA7 were set to 27683825; 29718187
Ataxia and cerebellar anomalies - narrow panel v2.83 COA7 Sarah Leigh Publications for gene: COA7 were set to 29718187; 27683825
Likely inborn error of metabolism v2.109 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Mitochondrial disorder with complex IV deficiency v1.11 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
White matter disorders and cerebral calcification - narrow panel v1.33 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Hereditary ataxia with onset in adulthood v2.36 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia with axonal neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Mitochondrial disorders v2.22 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Hereditary neuropathy v1.384 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Possible mitochondrial disorder - nuclear genes v1.39 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Ataxia and cerebellar anomalies - narrow panel v2.82 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Intellectual disability v3.1009 FAR1 Arina Puzriakova Publications for gene: FAR1 were set to 0
Early onset or syndromic epilepsy v2.316 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Fetal anomalies v1.640 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Likely inborn error of metabolism v2.108 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Undiagnosed metabolic disorders v1.452 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Peroxisomal disorders v1.7 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Intellectual disability v3.1008 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Mitochondrial disorders v2.21 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 4, 615300; Perrault syndrome to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Likely inborn error of metabolism v2.107 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Possible mitochondrial disorder - nuclear genes v1.38 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Undiagnosed metabolic disorders v1.451 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 4, 615300; Perrault syndrome to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Rare anaemia v1.21 LARS2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: LARS2.
Rare anaemia v1.21 LARS2 Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v1.21 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to
Rare anaemia v1.20 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Ataxia and cerebellar anomalies - narrow panel v2.81 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Perrault syndrome 4, MIM# 615300; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy to Perrault syndrome 4, OMIM:615300
Adult onset leukodystrophy v1.8 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Leukodystrophy to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Leukodystrophy
Primary ovarian insufficiency v1.22 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 615300 to Perrault syndrome 4, OMIM:615300
Fetal hydrops v1.28 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; HLASA to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Fetal hydrops v1.27 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to 26537577
Fetal hydrops v1.26 LARS2 Arina Puzriakova Classified gene: LARS2 as Green List (high evidence)
Fetal hydrops v1.26 LARS2 Arina Puzriakova Added comment: Comment on list classification: Promoted from Red to Green as there is now a sufficient number of unrelated cases (3) with evidence of fetal hydrops due to biallelic variants in this gene.
Fetal hydrops v1.26 LARS2 Arina Puzriakova Gene: lars2 has been classified as Green List (High Evidence).
Fetal hydrops v1.25 LARS2 Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.639 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from PERRAULT SYNDROME to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Fetal anomalies v1.638 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to
Fetal anomalies v1.637 LARS2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: LARS2.
Fetal anomalies v1.637 LARS2 Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1007 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to
Intellectual disability v3.1006 LARS2 Arina Puzriakova changed review comment from: Comment on list classification: While are a few cases with neurological symptoms including developmental delay have been reported, this manifestation is part of a broader phenotype where cognitive impairment is unlikely to represent a main feature. In the majority of cases, cognitive function is preserved.

Therefore, rating Amber on this panel. The phenotypes associated with LARS2 are better represented in other panels (e.g. Hearing loss) where this gene is already Green.; to: Comment on list classification: While a few cases with neurological symptoms including developmental delay or neurologic decline have been reported (PMID: 29205794; 30737337; 32442335), this manifestation is part of a broader phenotype where cognitive impairment is unlikely to represent the main feature. In the majority of cases, cognitive function is preserved.

Therefore, rating Amber on this panel. The phenotypes associated with LARS2 are better represented in other panels (e.g. Hearing loss) where this gene is already Green.
Intellectual disability v3.1006 LARS2 Arina Puzriakova Classified gene: LARS2 as Amber List (moderate evidence)
Intellectual disability v3.1006 LARS2 Arina Puzriakova Added comment: Comment on list classification: While are a few cases with neurological symptoms including developmental delay have been reported, this manifestation is part of a broader phenotype where cognitive impairment is unlikely to represent a main feature. In the majority of cases, cognitive function is preserved.

Therefore, rating Amber on this panel. The phenotypes associated with LARS2 are better represented in other panels (e.g. Hearing loss) where this gene is already Green.
Intellectual disability v3.1006 LARS2 Arina Puzriakova Gene: lars2 has been classified as Amber List (Moderate Evidence).
Rare anaemia v1.19 LARS2 Arina Puzriakova Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v2.158 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from #615300: Perrault syndrome 4 to Perrault syndrome 4, OMIM:615300
Intellectual disability v3.1005 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Leukodystrophy
Intellectual disability v3.1004 LARS2 Arina Puzriakova Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 PRIM1 Arina Puzriakova Classified gene: PRIM1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 PRIM1 Arina Puzriakova Added comment: Comment on list classification: PRIM1 was added to this panel following discussion with Helen Brittain (Genomics England Clinical Team). It was agreed that there is sufficient evidence to rate this gene Green at the next review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.413 PRIM1 Arina Puzriakova Gene: prim1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.412 PRIM1 Arina Puzriakova gene: PRIM1 was added
gene: PRIM1 was added to Primary immunodeficiency. Sources: Literature
Q2_21_rating tags were added to gene: PRIM1.
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to GREEN
Added comment: PRIM1 is currently not associated with any phenotype in OMIM (last edited in 2004) or Gene2Phenotype.

- PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Severe microcephaly v2.111 PRIM1 Arina Puzriakova edited their review of gene: PRIM1: Changed rating: GREEN
Severe microcephaly v2.111 PRIM1 Arina Puzriakova Classified gene: PRIM1 as Amber List (moderate evidence)
Severe microcephaly v2.111 PRIM1 Arina Puzriakova Added comment: Comment on list classification: Following discussion with Helen Brittain (Genomics England Clinical Team) it was agreed that there is sufficient evidence to rate this gene Green at the next review
Severe microcephaly v2.111 PRIM1 Arina Puzriakova Gene: prim1 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.110 PRIM1 Arina Puzriakova Tag watchlist was removed from gene: PRIM1.
Tag Q2_21_rating tag was added to gene: PRIM1.
Laterality disorders and isomerism v1.27 NKX2-5 Ivone Leong Mode of inheritance for gene: NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism v1.26 NKX2-5 Ivone Leong Publications for gene: NKX2-5 were set to
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Tag Q2_21_rating tag was added to gene: CFAP52.
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Classified gene: CFAP52 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Laterality disorders and isomerism v1.25 CFAP52 Ivone Leong Gene: cfap52 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.24 CFAP52 Ivone Leong Phenotypes for gene: CFAP52 were changed from Heterotaxy to visceral heterotaxy, MONDO:0018677
Laterality disorders and isomerism v1.23 CFAP45 Ivone Leong Classified gene: CFAP45 as Amber List (moderate evidence)
Laterality disorders and isomerism v1.23 CFAP45 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Laterality disorders and isomerism v1.23 CFAP45 Ivone Leong Gene: cfap45 has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v1.22 CFAP45 Ivone Leong Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Situs inversus, MONDO:0010029; male infertility due to sperm motility disorder, MONDO:0018395
Laterality disorders and isomerism v1.21 CFAP45 Ivone Leong Tag Q2_21_rating tag was added to gene: CFAP45.
Retinal disorders v2.177 AMACR Ivone Leong Classified gene: AMACR as Amber List (moderate evidence)
Retinal disorders v2.177 AMACR Ivone Leong Added comment: Comment on list classification: New gene added by Hannah Knight (Moorfields Eye Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.177 AMACR Ivone Leong Gene: amacr has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.176 AMACR Ivone Leong Tag Q2_21_rating tag was added to gene: AMACR.
Tag Q2_21_NHS_review tag was added to gene: AMACR.
Retinal disorders v2.176 AMACR Ivone Leong Phenotypes for gene: AMACR were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200; Alpha-methylacyl-CoA racemase deficiency, OMIM:614307
Retinal disorders v2.175 AMACR Ivone Leong Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
Intestinal failure or congenital diarrhoea v1.35 TMPRSS15 Ivone Leong Classified gene: TMPRSS15 as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.35 TMPRSS15 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.35 TMPRSS15 Ivone Leong Gene: tmprss15 has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.34 TMPRSS15 Ivone Leong Tag Q2_21_rating tag was added to gene: TMPRSS15.
Intestinal failure or congenital diarrhoea v1.34 TMPRSS15 Ivone Leong Phenotypes for gene: TMPRSS15 were changed from Enterokinase deficiency, MIM# 226200 to Enterokinase deficiency, OMIM:226200
Intestinal failure or congenital diarrhoea v1.33 PLVAP Ivone Leong Classified gene: PLVAP as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.33 PLVAP Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.33 PLVAP Ivone Leong Gene: plvap has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.32 PLVAP Ivone Leong Tag Q2_21_rating tag was added to gene: PLVAP.
Intestinal failure or congenital diarrhoea v1.32 PLVAP Ivone Leong Added comment: Comment on publications: PMID: 26207260. Patient is of Afgan descent born to consanguineous parents. Presented at 8 days of life with secretory diarrhea, metabolic acidosis, lethargy, poor feeding, and severe hyponatremia causing seizures. Further examination shows patient had bilateral colobomas, undescended testes, mildly dysplastic kidneys bilaterally, low-set ears, and micrognathia.

PMID: 29875123. 2 patients (first cousins) from a Muslim Arab consanguineous kindred presented with anasarca, severe hypoalbuminaemia and hypogammaglobinaemia.

PMID: 29661969. Patient is of Turkish descent born to consanguineous parents. Presented with severe haematochezia and moderate anasarca. Other findings: dysmorphism, metabolic acidosis, electrolyte deficiencies, elevated GGT, choroid plexus cysts, iris cysts, ASD, VSD, dilated megaureter with dilated renal pelvis, venous thrombosis.

PMID: 31215290. Patient born to consanguineous parents. As well as intestinal phenotypes, she also had dysmorphic features, renal and cardiac phenotypes.
Intestinal failure or congenital diarrhoea v1.32 PLVAP Ivone Leong Publications for gene: PLVAP were set to 29875123; 29661969; 26207260; 31215290
Intestinal failure or congenital diarrhoea v1.31 PLVAP Ivone Leong Phenotypes for gene: PLVAP were changed from Diarrhoea 10, protein-losing enteropathy type, MIM# 618183 to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Intestinal failure or congenital diarrhoea v1.30 NEUROG3 Ivone Leong Classified gene: NEUROG3 as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.30 NEUROG3 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.30 NEUROG3 Ivone Leong Gene: neurog3 has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.29 NEUROG3 Ivone Leong Tag Q2_21_rating tag was added to gene: NEUROG3.
Intestinal failure or congenital diarrhoea v1.29 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Diarrhoea 4, malabsorptive, congenital, MIM# 610370 to Diarrhoea 4, malabsorptive, congenital, OMIM:610370
Structural eye disease v1.56 WNT2B Ivone Leong Classified gene: WNT2B as Amber List (moderate evidence)
Structural eye disease v1.56 WNT2B Ivone Leong Gene: wnt2b has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.55 WNT2B Ivone Leong Publications for gene: WNT2B were set to
Structural eye disease v1.54 WNT2B Ivone Leong Phenotypes for gene: WNT2B were changed from 29909964; 33526876 to Diarrhoea 9, OMIM:618168; microcornea; coloboma, MONDO:0001476
Structural eye disease v1.53 WNT2B Ivone Leong edited their review of gene: WNT2B: Changed publications: 29909964, 33526876; Changed phenotypes: Diarrhoea 9, OMIM:618168, microcornea, coloboma, MONDO:0001476
Structural eye disease v1.53 WNT2B Ivone Leong gene: WNT2B was added
gene: WNT2B was added to Structural eye disease. Sources: Literature
watchlist tags were added to gene: WNT2B.
Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT2B were set to 29909964; 33526876
Review for gene: WNT2B was set to AMBER
Added comment: This gene is associated with a phenotype in OMIM but not Gene2Phenotype. This gene is also present on the Intestinal failure panel (Version 1.28).

Review submitted by Zornitza Stark on the Intestinal failure panel:
"Diarrhoea-9 is a form of neonatal-onset chronic diarrhoea characterized by an osmotic diarrhoea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption. Three probands from two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function. Borderline Green/Amber. Sources: Expert Review
Zornitza Stark (Australian Genomics), 4 Jan 2021"

PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD. The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients.

As there are only 2 cases of patients with microcornea and coloboma this gene has been given an Amber rating.
Sources: Literature
Differences in sex development v2.46 WNT2B Ivone Leong gene: WNT2B was added
gene: WNT2B was added to Disorders of sex development. Sources: Literature
Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT2B were set to 29909964; 33526876
Phenotypes for gene: WNT2B were set to Diarrhoea 9, OMIM:618168; 46,XX testicular disorder of sex development, MONDO:0100249
Review for gene: WNT2B was set to RED
Added comment: This gene is associated with a phenotype in OMIM but not Gene2Phenotype. This gene is also present on the Intestinal failure panel (Version 1.28).

Review submitted by Zornitza Stark on the Intestinal failure panel:
"Diarrhoea-9 is a form of neonatal-onset chronic diarrhoea characterized by an osmotic diarrhoea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption. Three probands from two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function. Borderline Green/Amber. Sources: Expert Review
Zornitza Stark (Australian Genomics), 4 Jan 2021"

PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD. The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients.

As there is only 1 case, this gene has been added as Red on this panel.
Sources: Literature
Intestinal failure or congenital diarrhoea v1.28 WNT2B Ivone Leong Classified gene: WNT2B as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.28 WNT2B Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.28 WNT2B Ivone Leong Gene: wnt2b has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.27 WNT2B Ivone Leong Tag Q2_21_rating tag was added to gene: WNT2B.
Intestinal failure or congenital diarrhoea v1.27 WNT2B Ivone Leong Added comment: Comment on publications: PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD.

The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients.
Intestinal failure or congenital diarrhoea v1.27 WNT2B Ivone Leong Publications for gene: WNT2B were set to 29909964
Intestinal failure or congenital diarrhoea v1.26 WNT2B Ivone Leong Phenotypes for gene: WNT2B were changed from Diarrhoea 9, MIM# 618168 to Diarrhoea 9, OMIM:618168
Intestinal failure or congenital diarrhoea v1.25 TTC37 Ivone Leong Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1 222470 to Trichohepatoenteric syndrome 1, OMM:222470
Intestinal failure or congenital diarrhoea v1.24 STXBP2 Ivone Leong Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5 613101 to Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
Intestinal failure or congenital diarrhoea v1.23 STX3 Ivone Leong Phenotypes for gene: STX3 were changed from Microvillus inclusion disease; congenital diarrheal disorder to Microvillus inclusion disease, MONDO:0009635; diarrheal disorder, MONDO:0001673
Intestinal failure or congenital diarrhoea v1.22 SPINT2 Ivone Leong Phenotypes for gene: SPINT2 were changed from congenital sodium diarrhea; Congenital tufting enteropathy to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Intestinal failure or congenital diarrhoea v1.21 SLC9A3 Ivone Leong Phenotypes for gene: SLC9A3 were changed from Congenital sodium diarrhea to Diarrhea 8, secretory sodium, congenital, OMM:616868
Intestinal failure or congenital diarrhoea v1.20 SLC26A3 Ivone Leong Phenotypes for gene: SLC26A3 were changed from Congenital chloride diarrhea to Diarrhea 1, secretory chloride, congenital, OMIM:214700
Intestinal failure or congenital diarrhoea v1.19 SKIV2L Ivone Leong Added comment: Comment on publications: 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure or congenital diarrhoea v1.19 SKIV2L Ivone Leong Publications for gene: SKIV2L were set to 22444670; 27302973; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
Intestinal failure or congenital diarrhoea v1.18 SKIV2L Ivone Leong Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2 614602 to Trichohepatoenteric syndrome 2, OMIM:614602
Intestinal failure or congenital diarrhoea v1.17 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 to Microvillus inclusion disease, OMIM:251850
Intestinal failure or congenital diarrhoea v1.16 GUCY2C Ivone Leong Phenotypes for gene: GUCY2C were changed from Familial Diarrhea 6 614616 to Familial Diarrhea 6, OMIM:614616
Intestinal failure or congenital diarrhoea v1.15 GUCY2C Ivone Leong Phenotypes for gene: GUCY2C were changed from Familial Diarrhea 6 614616 to Familial Diarrhea 6 614616
Intestinal failure or congenital diarrhoea v1.14 EPCAM Ivone Leong Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Intestinal failure or congenital diarrhoea v1.13 DGAT1 Ivone Leong Phenotypes for gene: DGAT1 were changed from Congenital diarrheal disorder to Congenital diarrheal disorder; ?Diarrhea 7, protein-losing enteropathy type, OMIM:615863
Pancreatitis v2.10 CELA3B Ivone Leong Classified gene: CELA3B as Amber List (moderate evidence)
Pancreatitis v2.10 CELA3B Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie. This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 31369399. Other affected members of this large family could not be tested and therefore the genetic status of the affected individuals are unknown. The family also has a variant in FOXN1, as the gene is not expressed in the pancreas the authors hypothesised that the FOXN1 variant was not causative.

PMID: 33565216. Four patients with p.Arg90Leu (c.269G>T) were from cases with familial chronic pancreatitis and young cases with idiopathic chronic pancreatitis (2 each). The familial chronic pancreatitis cases each have an affected first‐degree relative who have not been analysed yet.

This gene has been added as an Amber gene and will be reviewed by the GMS specialist group to see if there is enough evidence to promote to Green status.
Pancreatitis v2.10 CELA3B Ivone Leong Gene: cela3b has been classified as Amber List (Moderate Evidence).
Pancreatitis v2.9 CELA3B Ivone Leong Tag Q2_21_rating tag was added to gene: CELA3B.
Tag Q2_21_NHS_review tag was added to gene: CELA3B.
Pancreatitis v2.9 CELA3B Ivone Leong Phenotypes for gene: CELA3B were changed from Chronic Pancreatitis; Diabetes; Pancreatic cancer to Chronic Pancreatitis, MONDO:0005003; diabetes mellitus (disease), MONDO:0005015; Pancreatic cancer
Pancreatitis v2.8 CELA3B Ivone Leong Publications for gene: CELA3B were set to
Intellectual disability v3.1003 NCKAP1 Zornitza Stark reviewed gene: NCKAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33157009; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.1003 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
Intellectual disability v3.1003 DPYS Zornitza Stark gene: DPYS was added
gene: DPYS was added to Intellectual disability. Sources: Expert Review
Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYS were set to Dihydropyrimidinuria, MIM#222748
Review for gene: DPYS was set to GREEN
gene: DPYS was marked as current diagnostic
Added comment: Highly variable phenotype, but many have ID.
Sources: Expert Review
Intellectual disability v3.1003 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Intellectual disability v3.1003 B4GALT1 Zornitza Stark reviewed gene: B4GALT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1003 AGO1 Zornitza Stark reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770, 28135719; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 ZNFX1 Boaz Palterer gene: ZNFX1 was added
gene: ZNFX1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNFX1 were set to mendelian susceptibility to mycobacterial disease; MSMD; monocytosis.
Penetrance for gene: ZNFX1 were set to unknown
Review for gene: ZNFX1 was set to RED
Added comment: Le Voyer et al. described two patients from two unrelated kindreds with homozygous LOF variants in the ZNFX1 gene associated with mendelian susceptibility to mycobacterial disease (MSMD) and monocytosis. ( https://www.pnas.org/content/118/15/e2102804118 )
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 SYK Boaz Palterer gene: SYK was added
gene: SYK was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYK were set to 33782605
Phenotypes for gene: SYK were set to immunodeficiency; hypogammaglobulinemia; multi-organ inflammatory disease
Penetrance for gene: SYK were set to unknown
Mode of pathogenicity for gene: SYK 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: SYK was set to AMBER
Added comment: Wang et al. identified six patients from unrelated kindreds with monoallelic SYK variants causing immunodeficiency and a multiorgan inflammatory disease. The variants were proven to be functionally gain-of-function. Functional GOF was confirmed in knock-in mouse experiments.
Sources: Literature
Fetal anomalies v1.637 PLD1 Suzanne Drury gene: PLD1 was added
gene: PLD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 33645542
Phenotypes for gene: PLD1 were set to HP:0001654; HP:0001627; HP:0001638
Review for gene: PLD1 was set to GREEN
Added comment: PMID 33645542 identified 30 patients from 21 unrelated families of different ancestries with biallelic PLD1 variants. All 30 patients were diagnosed with severe congenital heart disease or
cardiomyopathy at the fetal or neonatal stage. PLD1 can also cause neonatal cardiomyopathy in the absence of congenital heart defects.
Sources: Literature
Dilated and arrhythmogenic cardiomyopathy v1.13 RYR2 Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel. Definitive ARVC/CPVT gene, appropriate for DCM panel due to possible phenotypic overlap. some evidence for exon 3 deletion specifically associated with DCM.; to: On CGGL Royal Brompton DCM panel. Definitive CPVT gene, appropriate for DCM panel due to possible phenotypic overlap as some evidence for exon 3 deletion specifically associated with DCM.
Ataxia and cerebellar anomalies - narrow panel v2.80 CLPP Sarah Leigh reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v2.80 CLPP Sarah Leigh Publications for gene: CLPP were set to 25254289
Ataxia and cerebellar anomalies - narrow panel v2.79 CLPP Sarah Leigh Phenotypes for gene: CLPP were changed from Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588 to Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588
Congenital disorders of glycosylation v2.66 SSR4 Sarah Leigh commented on gene: SSR4: GlyGen link updated April 2021: https://www.glygen.org/protein/P51571-1#Disease
Congenital disorders of glycosylation v2.66 SLC39A8 Sarah Leigh commented on gene: SLC39A8: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9C0K1-1#Disease
Congenital disorders of glycosylation v2.66 POMT2 Sarah Leigh commented on gene: POMT2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9UKY4-1#Disease
Congenital disorders of glycosylation v2.66 POMGNT1 Sarah Leigh commented on gene: POMGNT1: GlyGen link updated April 2021: https://www.glygen.org/protein/Q8WZA1-1#Disease
Congenital disorders of glycosylation v2.66 POMT1 Sarah Leigh commented on gene: POMT1: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y6A1-1#Disease
Congenital disorders of glycosylation v2.66 PIGL Sarah Leigh commented on gene: PIGL: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y2B2-1#Disease
Congenital disorders of glycosylation v2.66 PIGO Sarah Leigh commented on gene: PIGO: GlyGen link updated April 2021: https://www.glygen.org/protein/Q8TEQ8-1#Disease
Congenital disorders of glycosylation v2.66 PIGA Sarah Leigh commented on gene: PIGA: GlyGen link updated April 2021: https://www.glygen.org/protein/P37287-1#Disease
Congenital disorders of glycosylation v2.66 PGM1 Sarah Leigh commented on gene: PGM1: GlyGen link updated April 2021: https://www.glygen.org/protein/P36871-1#Disease
Congenital disorders of glycosylation v2.66 PGAP2 Sarah Leigh commented on gene: PGAP2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9UHJ9-1#Disease
Fetal anomalies v1.637 CLTC Suzanne Drury reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PMID:33743358; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v2.66 LARGE1 Sarah Leigh commented on gene: LARGE1: GlyGen link updated April 2021: https://www.glygen.org/protein/O95461-1#Disease
Congenital disorders of glycosylation v2.66 FUT8 Sarah Leigh commented on gene: FUT8
Congenital disorders of glycosylation v2.66 FKTN Sarah Leigh commented on gene: FKTN: GlyGen link updated April 2021: https://www.glygen.org/protein/O75072-1#Disease
Congenital disorders of glycosylation v2.66 FKRP Sarah Leigh commented on gene: FKRP: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H9S5-1#Disease
Congenital disorders of glycosylation v2.66 EXT2 Sarah Leigh commented on gene: EXT2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q93063-1#Disease
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh changed review comment from: GlyGen link: https://www.glygen.org/protein/Q16394-1#Disease; to: GlyGen link updated April 2021: https://www.glygen.org/protein/Q16394-1#Disease
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh changed review comment from: Comment on phenotypes: Also associated with Chondrosarcoma 215300 ; to: Comment on phenotypes: Also associated with Chondrosarcoma 215300
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh commented on gene: EXT1: GlyGen link: https://www.glygen.org/protein/Q16394-1#Disease
Congenital disorders of glycosylation v2.66 DPAGT1 Sarah Leigh commented on gene: DPAGT1: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H3H5-1#Disease
Congenital disorders of glycosylation v2.66 CCDC115 Sarah Leigh commented on gene: CCDC115: GlyGen link updated April 2021: https://www.glygen.org/protein/Q96NT0-1#Disease
Congenital disorders of glycosylation v2.66 ATP6V0A2 Sarah Leigh commented on gene: ATP6V0A2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y487-1#Disease
Congenital disorders of glycosylation v2.66 TMEM165 Sarah Leigh commented on gene: TMEM165: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9HC07-1#Disease
Ataxia and cerebellar anomalies - narrow panel v2.78 CLPP Sarah Leigh Classified gene: CLPP as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.78 CLPP Sarah Leigh Gene: clpp has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.77 CLPP Sarah Leigh Classified gene: CLPP as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.77 CLPP Sarah Leigh Gene: clpp has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.76 CLPP Sarah Leigh Publications for gene: CLPP were set to 25254289
Ataxia and cerebellar anomalies - narrow panel v2.75 CLPP Sarah Leigh Phenotypes for gene: CLPP were changed from Perrault syndrome 3, MIM# 614129 to Perrault syndrome 3 OMIM:614129; Perrault syndrome 3 MONDO:0013588
Undiagnosed metabolic disorders v1.450 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Intellectual disability v3.1003 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731; NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 (CLN5) to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Likely inborn error of metabolism v2.106 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Retinal disorders v2.174 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Childhood onset dystonia, chorea or related movement disorder v1.86 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
DDG2P v2.24 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Ataxia and cerebellar anomalies - narrow panel v2.74 CLN5 Sarah Leigh edited their review of gene: CLN5: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least ten variants reported in at least nine unrelated cases.
Ataxia is a feature of Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745; Changed rating: GREEN
Ataxia and cerebellar anomalies - narrow panel v2.74 CLN5 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLN5.
Ataxia and cerebellar anomalies - narrow panel v2.74 CLN5 Sarah Leigh Classified gene: CLN5 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.74 CLN5 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.74 CLN5 Sarah Leigh Gene: cln5 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.73 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Ataxia and cerebellar anomalies - narrow panel v2.72 BBS1 Sarah Leigh Tag Q2_21_rating tag was added to gene: BBS1.
Intellectual disability v3.1002 BBS1 Sarah Leigh Publications for gene: BBS1 were set to
Bardet Biedl syndrome v1.11 BBS1 Sarah Leigh Publications for gene: BBS1 were set to 12118255
Limb disorders v2.39 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1 209900 to Polydactyly; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Severe early-onset obesity v2.38 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1, OMIM:209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Renal ciliopathies v1.41 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet Biedl syndrome 13; 268000; Bardet Biedl syndrome 1; Bardet Biedl syndrome 11 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Intellectual disability v3.1001 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900; BARDET-BIEDL SYNDROME TYPE 1 (BBS1) to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Retinal disorders v2.173 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
DDG2P v2.23 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Fetal anomalies v1.637 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Unexplained young onset end-stage renal disease v1.16 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome type 1 209900 to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Skeletal dysplasia v2.87 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1 209900 to Polydactyly; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Bardet Biedl syndrome v1.10 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Ataxia and cerebellar anomalies - narrow panel v2.72 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, MIM#209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Ataxia and cerebellar anomalies - narrow panel v2.71 BBS1 Sarah Leigh edited their review of gene: BBS1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous unrelated cases.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v2.71 BBS1 Sarah Leigh Classified gene: BBS1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.71 BBS1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.71 BBS1 Sarah Leigh Gene: bbs1 has been classified as Amber List (Moderate Evidence).
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.20 CFHR5 Sarah Leigh changed review comment from: PMID 22503529 reports a heterozygous 1bp insertion variant (rs565457964) in a child with Nephropathy due to CFHR5 deficiency OMIM:614809.; to: PMID 22503529 reports a heterozygous 1bp insertion variant (rs565457964) in a child with Nephropathy due to CFHR5 deficiency OMIM:614809 and persistent renal disease following a streptococcal infection. The variant was also seen in her unaffected mother and sister, which suggested that this variant is not sufficient to cause disease, but likely acts as a susceptibility factor for the development of glomerulonephritis.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.20 CFHR5 Sarah Leigh commented on gene: CFHR5
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.20 CFHR5 Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.19 CFHR5 Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961]
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.18 CFHR5 Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.17 CFHR5 Sarah Leigh Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560
Additional findings health related - CNV analysis children v1.0 Eleanor Williams promoted panel to version 1.0
Additional findings health related - CNV analysis adult specific v1.0 Eleanor Williams promoted panel to version 1.0
Additional findings health related - children v1.0 Eleanor Williams promoted panel to version 1.0
Additional findings health related - adult specific v1.0 Eleanor Williams promoted panel to version 1.0
Gastrointestinal epithelial barrier disorders v1.60 ANO1 Arina Puzriakova Classified gene: ANO1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders v1.60 ANO1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber, awaiting further cases and review of phenotype associated with variants in this gene.
Gastrointestinal epithelial barrier disorders v1.60 ANO1 Arina Puzriakova Gene: ano1 has been classified as Amber List (Moderate Evidence).
Familial melanoma v1.9 POT1 Arina Puzriakova Phenotypes for gene: POT1 were changed from Melanoma, cutaneous malignant, susceptibility to, 10, 615848 to Melanoma, cutaneous malignant, susceptibility to, 10, OMIM:615848
Familial melanoma v1.8 POT1 Arina Puzriakova Publications for gene: POT1 were set to 24686849; 24686846; 29523635; 30451293; 30586141; 32325837
Familial melanoma v1.7 POT1 Arina Puzriakova edited their review of gene: POT1: Changed publications: 24686849, 24686846, 29523635, 30451293, 30586141, 32325837, 32907878
Additional findings reproductive carrier status v1.0 Eleanor Williams promoted panel to version 1.0
Ataxia and cerebellar anomalies - narrow panel v2.70 ATP8A2 Sarah Leigh edited their review of gene: ATP8A2: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 21 variants reported in 17 unrelated cases with varying degrees of severity, together with supportive expression and functional studies (PMID 31612321).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1000 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 27679995; 30012219; 29531481; 29531481; 31612321
Hereditary ataxia with onset in adulthood v2.35 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321
Ataxia and cerebellar anomalies - narrow panel v2.70 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321; 27679995
Ataxia and cerebellar anomalies - narrow panel v2.69 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321
Intellectual disability v3.999 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 27679995; 30012219; 29531481
Hereditary ataxia with onset in adulthood v2.34 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321; 30012219
Ataxia and cerebellar anomalies - narrow panel v2.68 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 30012219; 31612321
Ataxia and cerebellar anomalies - narrow panel v2.67 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321
Hereditary ataxia with onset in adulthood v2.33 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528; 31612321
Ataxia and cerebellar anomalies - narrow panel v2.66 ATP8A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: ATP8A2.
Ataxia and cerebellar anomalies - narrow panel v2.66 ATP8A2 Sarah Leigh Classified gene: ATP8A2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.66 ATP8A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.66 ATP8A2 Sarah Leigh Gene: atp8a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.998 ATP8A2 Sarah Leigh Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268; intellectual disability to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Ataxia and cerebellar anomalies - narrow panel v2.65 ATP8A2 Sarah Leigh Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Hereditary ataxia with onset in adulthood v2.32 ATP8A2 Sarah Leigh Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Hereditary ataxia with onset in adulthood v2.31 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to 22892528
Ataxia and cerebellar anomalies - narrow panel v2.64 ATP8A2 Sarah Leigh Publications for gene: ATP8A2 were set to PMID: 22892528
Ataxia and cerebellar anomalies - narrow panel v2.63 ATCAY Sarah Leigh reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia v1.215 ATCAY Sarah Leigh reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v3.997 SPEN Arina Puzriakova Publications for gene: SPEN were set to 33057194
Intellectual disability v3.996 SPEN Arina Puzriakova Classified gene: SPEN as Amber List (moderate evidence)
Intellectual disability v3.996 SPEN Arina Puzriakova Added comment: Comment on list classification: There is now enough evidence to promote this gene to Green at the next review - sufficient cases (>20) with truncating SPEN variants and GDD/ID of relevant severity to this panel.
Intellectual disability v3.996 SPEN Arina Puzriakova Gene: spen has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.995 SPEN Arina Puzriakova Tag Q2_21_rating tag was added to gene: SPEN.
Childhood onset dystonia, chorea or related movement disorder v1.85 MED27 Arina Puzriakova Classified gene: MED27 as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.85 MED27 Arina Puzriakova Gene: med27 has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.84 MED27 Arina Puzriakova gene: MED27 was added
gene: MED27 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature
Q2_21_rating tags were added to gene: MED27.
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy
Review for gene: MED27 was set to GREEN
Added comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'

- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), cataracts (10/15), epilepsy (9/15), and microcephaly (4/14). Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.

Overall sufficient (>3) unrelated cases for inclusion if phenotypes are considered to be within the scope of this panel - most individuals presented dystonic movements, but only 2 sibs experienced generalised dystonia.
Sources: Literature
Early onset or syndromic epilepsy v2.315 MED27 Arina Puzriakova Classified gene: MED27 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.315 MED27 Arina Puzriakova Gene: med27 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.314 MED27 Arina Puzriakova gene: MED27 was added
gene: MED27 was added to Genetic epilepsy syndromes. Sources: Literature
Q2_21_rating tags were added to gene: MED27.
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy
Review for gene: MED27 was set to GREEN
Added comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'

- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), cataracts (10/15), epilepsy (9/15), and microcephaly (4/14). Age of seizure onset ranged from 20 days to 5 years and seizure types were varied. Epilepsy was drug-resistant in 3/9 patients. Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.

Overall sufficient (>3) unrelated cases with epilepsy in patients with MED27 variants for inclusion on this panel as diagnostic-grade (Green).
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.68 MED27 Arina Puzriakova Classified gene: MED27 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v2.68 MED27 Arina Puzriakova Gene: med27 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v2.67 MED27 Arina Puzriakova gene: MED27 was added
gene: MED27 was added to Cataracts. Sources: Literature
Q2_21_rating tags were added to gene: MED27.
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy
Review for gene: MED27 was set to GREEN
Added comment: MED27 is currently not associated with any phenotype in OMIM (last edited on 08/03/2012), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'MED27-related neurodevelopmental disorder'

- PMID: 33443317 (2021) - 16 individuals from 11 families with a neurodevelopmental syndrome characterised by mild to profound GDD/ID (14/14), axial hypotonia (14/15), distal spasticity and dystonic movements (13/15), cerebellar hypoplasia (12/14), epilepsy (9/15), and microcephaly (4/14). Cataracts were present in 10/15 patients, with four reporting mature cataracts, and 2 sibs had posterior cataracts. Exome sequencing revealed biallelic variants in the MED27 gene, including 3 recurrent variants found in 2 or more families with different background.

Overall sufficient (>3) unrelated cases with cataracts in patients in MED27 variants for inclusion on this panel as diagnostic-grade (Green).
Sources: Literature
Intellectual disability v3.995 MED27 Arina Puzriakova Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Intellectual disability; Axial hypotonia; Spasticity; Dystonia; Cerebellar hypoplasia; Cataracts; Epilepsy
Intellectual disability v3.994 MED27 Arina Puzriakova Classified gene: MED27 as Amber List (moderate evidence)
Intellectual disability v3.994 MED27 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next review - at least 11 unrelated families reported with MED27 variants presenting overlapping phenotypes that include ID of relevant severity to this panel.
Intellectual disability v3.994 MED27 Arina Puzriakova Gene: med27 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.993 MED27 Arina Puzriakova Tag Q2_21_rating tag was added to gene: MED27.
Intellectual disability v3.993 MED27 Arina Puzriakova reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: 33443317; Phenotypes: Intellectual disability, Axial hypotonia, Spasticity, Dystonia, Cerebellar hypoplasia, Cataracts, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v2.30 ATCAY Sarah Leigh Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Hereditary ataxia v1.215 ATCAY Sarah Leigh Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Ataxia and cerebellar anomalies - narrow panel v2.63 ATCAY Sarah Leigh Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Hereditary ataxia with onset in adulthood v2.29 ATCAY Sarah Leigh Phenotypes for gene: ATCAY were changed from Cerebellar Ataxia, Cayman type; Cayman Ataxia, 601238; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025
Hereditary ataxia with onset in adulthood v2.28 ATCAY Sarah Leigh Publications for gene: ATCAY were set to
Hereditary ataxia v1.214 ATCAY Sarah Leigh Publications for gene: ATCAY were set to
Ataxia and cerebellar anomalies - narrow panel v2.62 ATCAY Sarah Leigh Publications for gene: ATCAY were set to 29449188; 14556008
Hereditary ataxia v1.213 ATCAY Sarah Leigh Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type ; Cerebellar Ataxia, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025
Ataxia and cerebellar anomalies - narrow panel v2.61 ATCAY Sarah Leigh Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type; Cerebellar Ataxia, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025
Ataxia and cerebellar anomalies - narrow panel v2.60 ATCAY Sarah Leigh Publications for gene: ATCAY were set to
Severe microcephaly v2.110 EIF5A Arina Puzriakova Classified gene: EIF5A as Amber List (moderate evidence)
Severe microcephaly v2.110 EIF5A Arina Puzriakova Gene: eif5a has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.109 EIF5A Arina Puzriakova gene: EIF5A was added
gene: EIF5A was added to Severe microcephaly. Sources: Literature
Q2_21_rating tags were added to gene: EIF5A.
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: EIF5A is currently not associated with any phenotype in OMIM (last edited on 18/07/2019), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'EIF5A-related craniofacial-neurodevelopmental disorder'

- PMID: 33547280 (2021) reports 7 unrelated individuals with different de novo heterozygous variants in the EIF5A gene. Microcephaly was evident at birth in 3/5 individuals, and assessments in later life indicated microcephaly in 5/7 cases (HC ranging between -1.94 and -7.47 SD). Other features include DD/ID and craniofacial dysmorphism, including micrognathia. Supportive functional data included.

Overall sufficient (>3) unrelated cases of microcephaly in patients with EIF5A variants, for inclusion on this panel.
Sources: Literature
Intellectual disability v3.993 EIF5A Arina Puzriakova Tag Q2_21_rating tag was added to gene: EIF5A.
Intellectual disability v3.993 EIF5A Arina Puzriakova Classified gene: EIF5A as Amber List (moderate evidence)
Intellectual disability v3.993 EIF5A Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene Green at the next review - PMID: 33547280 (2021) reports 7 unrelated individuals with different de novo heterozygous variants in the EIF5A gene. All were affected by variable degrees of DD and/or ID, mostly within the moderate severity range. Other features such as microcephaly and craniofacial dysmorphism were prominent but overall, the phenotype is best represented by this panel. Supportive functional data included.

EIF5A is currently not associated with any phenotype in OMIM (last edited on 18/07/2019), but is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'EIF5A-related craniofacial-neurodevelopmental disorder'
Intellectual disability v3.993 EIF5A Arina Puzriakova Gene: eif5a has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.159 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Platelet disorder; Thrombocytopenia and Immune Deficiency to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718; Combined immune deficiency with or without thrombocytopenia; Inflammatory predisposition
COVID-19 research v1.77 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from inflammatory predisposition; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718; Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching; Immunodeficiency with thrombocytopenia; Combined immunodeficiencies with associated or syndromic features; Thrombocytopenia & Immune Deficiency to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718; Combined immune deficiency with or without thrombocytopenia; Inflammatory predisposition
Bleeding and platelet disorders v1.26 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Cytopenia - NOT Fanconi anaemia v1.37 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Primary immunodeficiency or monogenic inflammatory bowel disease v2.411 ARPC1B Arina Puzriakova Publications for gene: ARPC1B were set to 28368018; 29127144; 27965109
Primary immunodeficiency or monogenic inflammatory bowel disease v2.410 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Thrombocytopenia & Immune Deficiency; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718; inflammatory predisposition; Immunodeficiency with thrombocytopenia; Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching; Combined immunodeficiencies with associated or syndromic features to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718; Combined immune deficiency with or without thrombocytopenia; Inflammatory predisposition
Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 MR1 Arina Puzriakova Classified gene: MR1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 MR1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 32709702 who presented immunodeficiency and a homozygous MR1 variant (c.92G>A, p.Arg31His) supported by some functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.409 MR1 Arina Puzriakova Gene: mr1 has been classified as Red List (Low Evidence).
Severe microcephaly v2.108 RAD50 Arina Puzriakova Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, 613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078
Severe microcephaly v2.107 RAD50 Arina Puzriakova Publications for gene: RAD50 were set to 1887849; 19409520; 32212377
Severe microcephaly v2.106 RAD50 Arina Puzriakova Classified gene: RAD50 as Amber List (moderate evidence)
Severe microcephaly v2.106 RAD50 Arina Puzriakova Added comment: Comment on list classification: There are now a total of 3 unrelated cases (PMIDs: 19409520; 32212377; 33378670) with a RAD50‐related syndrome including microcephaly. This therefore reaches the threshold for promotion of this gene to Green status at the next review (removed 'watchlist' tag and added 'Q2_21_rating' tag)
Severe microcephaly v2.106 RAD50 Arina Puzriakova Gene: rad50 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.105 RAD50 Arina Puzriakova Tag watchlist was removed from gene: RAD50.
Tag Q2_21_rating tag was added to gene: RAD50.
Severe microcephaly v2.105 RAD50 Arina Puzriakova edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - single patient described with bone marrow failure, immunodeficiency and developmental defects (including microcephaly), who was compound heterozygous for a frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo) in the RAD50 gene.
Functional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.; Changed rating: GREEN; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.992 RAD50 Arina Puzriakova Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, 613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078
Intellectual disability v3.991 RAD50 Arina Puzriakova Publications for gene: RAD50 were set to 1887849; 19409520; 32212377
Intellectual disability v3.990 RAD50 Arina Puzriakova edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - single patient described with bone marrow failure, immunodeficiency and developmental defects, who was compound heterozygous for a frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo) in the RAD50 gene.
Functional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.

This is the third case published with biallelic variants in the RAD50 gene. Although authors report 'developmental defects', it is unclear whether this individual displayed cognitive impairment. Therefore, maintaining the Red gene rating on this panel.; Changed rating: RED; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.408 RAD50 Arina Puzriakova Phenotypes for gene: RAD50 were changed from bone marrow failure; immunodeficiency; developmental defect to Nijmegen breakage syndrome-like disorder, OMIM:613078; Bone marrow failure; Immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.407 RAD50 Arina Puzriakova Classified gene: RAD50 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.407 RAD50 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Of the three total patients reported to date with biallelic variants in this gene, only one exhibited bone marrow failure and immunodeficiency (PMID: 33378670). Therefore rating Red on this panel until further cases are reported which indicate that RAD50 variants contribute to immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.407 RAD50 Arina Puzriakova Gene: rad50 has been classified as Red List (Low Evidence).
Neurotransmitter disorders v1.9 ALDH5A1 Sarah Leigh Classified gene: ALDH5A1 as Green List (high evidence)
Neurotransmitter disorders v1.9 ALDH5A1 Sarah Leigh Gene: aldh5a1 has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.59 ALDH5A1 Sarah Leigh edited their review of gene: ALDH5A1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous cases, together with supportive functional evidence and mouse model.; Changed rating: GREEN
Neurotransmitter disorders v1.8 ALDH5A1 Sarah Leigh edited their review of gene: ALDH5A1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous cases, together with supportive functional evidence and mouse model.; Changed rating: GREEN
Neurotransmitter disorders v1.8 ALDH5A1 Sarah Leigh Tag Q2_21_rating tag was added to gene: ALDH5A1.
Neurotransmitter disorders v1.8 ALDH5A1 Sarah Leigh Classified gene: ALDH5A1 as Amber List (moderate evidence)
Neurotransmitter disorders v1.8 ALDH5A1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neurotransmitter disorders v1.8 ALDH5A1 Sarah Leigh Gene: aldh5a1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.59 ALDH5A1 Sarah Leigh Classified gene: ALDH5A1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.59 ALDH5A1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.59 ALDH5A1 Sarah Leigh Gene: aldh5a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.990 ALDH5A1 Sarah Leigh Publications for gene: ALDH5A1 were set to
Likely inborn error of metabolism v2.105 ALDH5A1 Sarah Leigh Publications for gene: ALDH5A1 were set to 27604308
Early onset or syndromic epilepsy v2.313 ALDH5A1 Sarah Leigh Publications for gene: ALDH5A1 were set to
Likely inborn error of metabolism v2.104 ALDH5A1 Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Intellectual disability v3.989 ALDH5A1 Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, 271980; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Early onset or syndromic epilepsy v2.312 ALDH5A1 Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency 271980 to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Neurotransmitter disorders v1.7 ALDH5A1 Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Ataxia and cerebellar anomalies - narrow panel v2.58 ALDH5A1 Sarah Leigh Publications for gene: ALDH5A1 were set to 14635103
Intellectual disability v3.988 GNB1 Arina Puzriakova Phenotypes for gene: GNB1 were changed from Intellectual disability; developmental delay; Global developmental delay to Mental retardation, autosomal dominant 42, OMIM:616973
Intellectual disability v3.987 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Developmental regression; Seizures; Ataxia; Intellectual disability to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Hereditary ataxia with onset in adulthood v2.27 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to
Intellectual disability v3.986 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to 30100084
Early onset or syndromic epilepsy v2.311 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to 30100084
Early onset or syndromic epilepsy v2.310 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Intellectual disability, cerebellar atrophy, ataxia and epilepsy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
DDG2P v2.22 ADPRHL2 Sarah Leigh Added comment: Comment on phenotypes: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome;Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
DDG2P v2.22 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Ataxia and cerebellar anomalies - narrow panel v2.57 ADPRHL2 Sarah Leigh Classified gene: ADPRHL2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.57 ADPRHL2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.57 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.56 ADPRHL2 Sarah Leigh edited their review of gene: ADPRHL2: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 8 variants reported in 8 unrelated cases, together with supportive fuctional studies and a Drosophila paralog where a loss of Parg resulted in lethality on oxidative challenge that was rescued by human ADPRHL2.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 RAD50 Arina Puzriakova reviewed gene: RAD50: Rating: RED; Mode of pathogenicity: None; Publications: 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism v1.32 SPRY4 Ivone Leong Publications for gene: SPRY4 were set to 23643382
Ataxia and cerebellar anomalies - narrow panel v2.56 ADPRHL2 Sarah Leigh commented on gene: ADPRHL2
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Tag Q2_21_expert_review tag was added to gene: SPRY4.
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Classified gene: SPRY4 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

PMID:23643382 - 14 unrelated cases had variants in SPRY4, 3 cases had variants in other genes (DUSP6 and FGFR1).

PMID: 32389901 - 1 cases had variants in SPRY4 and PLXNA1.

Based on the available evidence, this variants in this gene may contribute to disease. Therefore this gene has been promoted from Red to Amber.
Hypogonadotropic hypogonadism v1.31 SPRY4 Ivone Leong Gene: spry4 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.56 ADPRHL2 Sarah Leigh Tag new-gene-name tag was added to gene: ADPRHL2.
Ataxia and cerebellar anomalies - narrow panel v2.56 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Hereditary ataxia with onset in adulthood v2.26 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Ataxia and cerebellar anomalies - narrow panel v2.55 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
Hypogonadotropic hypogonadism v1.30 SPRY4 Ivone Leong Phenotypes for gene: SPRY4 were changed from Hypogonadotropic hypogonadism 17 with or without anosmia 615266 to Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266
Hypogonadotropic hypogonadism (GMS) v1.42 IL17RD Ivone Leong edited their review of gene: IL17RD: Added comment: In addition to the review by Zornitza Stark (Australian Genomics), PMID: 23643382 states the following:

"Collectively, these data indicate that IL17RD mutations are strongly associated with KS and hearing loss; however, one allelic defect is most likely not sufficient, meaning that additional affected alleles in the same and/or other genes must be present to create the phenotype of KS with hearing loss."; Changed rating: AMBER
Hypogonadotropic hypogonadism (GMS) v1.42 IL17RD Ivone Leong Tag Q2_21_expert_review tag was added to gene: IL17RD.
Hypogonadotropic hypogonadism (GMS) v1.42 DUSP6 Ivone Leong Classified gene: DUSP6 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.42 DUSP6 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype.

PMID: 23643382 - 5 cases with variants in DUSP6 (3 of these cases have variants in other genes FGFR1 and SPRY4).

PMID: 32389901 - 6 cases with variants in DUSP6 (1 case also has variants in CCDC141).

Based on the available evidence this gene has been given an Amber rating and will be reviewed by the GMS specialist group.
Hypogonadotropic hypogonadism (GMS) v1.42 DUSP6 Ivone Leong Gene: dusp6 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.41 DUSP6 Ivone Leong Tag Q2_21_expert_review tag was added to gene: DUSP6.
Hypogonadotropic hypogonadism (GMS) v1.41 FGF17 Ivone Leong Classified gene: FGF17 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.41 FGF17 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype.

PMID: 23643382 identfied 3 cases with variants in the FGF17 gene. However, 1 of these cases have variants in other genes as well (FLRT3, HS6ST1 and FGFR1).

Based on the available evidence variants in this gene contribute to disease with variable penetrance. This gene has been given an Amber rating until further evidence is available.
Hypogonadotropic hypogonadism (GMS) v1.41 FGF17 Ivone Leong Gene: fgf17 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.40 FGF17 Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGF17.
Skeletal dysplasia v2.86 SCUBE3 Sarah Leigh Phenotypes for gene: SCUBE3 were changed from to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
Skeletal dysplasia v2.85 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; Changed rating: GREEN
Skeletal dysplasia v2.85 SCUBE3 Sarah Leigh Classified gene: SCUBE3 as Amber List (moderate evidence)
Skeletal dysplasia v2.85 SCUBE3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Skeletal dysplasia v2.85 SCUBE3 Sarah Leigh Gene: scube3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v2.84 SCUBE3 Sarah Leigh Tag Q2_21_rating tag was added to gene: SCUBE3.
Skeletal dysplasia v2.84 SCUBE3 Sarah Leigh Publications for gene: SCUBE3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 POU2AF1 Arina Puzriakova Classified gene: POU2AF1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 POU2AF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID: 33571536 with agammaglobulinemia and a homozygous POU2AF1 variant (c.233delC, p.Thr78Lysfs∗63) supported by functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.406 POU2AF1 Arina Puzriakova Gene: pou2af1 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Tag treatable tag was added to gene: GIMAP5.
Tag watchlist tag was added to gene: GIMAP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Classified gene: GIMAP5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. 4 unrelated families with an immunodeficiency disorder and difference biallelic LoF variants in the GIMAP5 gene. Clinical improvement in Gimap5-deficient mice and a human patient was observed following treatment with rapamycin (mTORC1 inhibitor)

Although there are sufficient cases with a relevant phenotype, rating this gene Amber while pending publication of the Park 2021 article, as information can change from the initial bioRxiv upload to peer-reviewed publication. Added 'watchlist' tag and will re-curate when the paper is published.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.405 GIMAP5 Arina Puzriakova Gene: gimap5 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.404 MAP1LC3B2 Arina Puzriakova Classified gene: MAP1LC3B2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.404 MAP1LC3B2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID:33310865 with recurrent herpes simplex virus 2-induced lymphocytic Mollaret's meningitis, and a MAP1LC3B2 variant (c.325C>A) supported by functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.404 MAP1LC3B2 Arina Puzriakova Gene: map1lc3b2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 ATG4A Arina Puzriakova Classified gene: ATG4A as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 ATG4A Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Single patient described in PMID:33310865 with recurrent herpes simplex virus 2-induced lymphocytic Mollaret's meningitis, and a ATG4A variant (c.268C>A) supported by functional data. Rating Red, awaiting further evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.403 ATG4A Arina Puzriakova Gene: atg4a has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v1.25 MAST2 Arina Puzriakova Classified gene: MAST2 as Red List (low evidence)
Bleeding and platelet disorders v1.25 MAST2 Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single family reported at this time (PMID:33465109)
Bleeding and platelet disorders v1.25 MAST2 Arina Puzriakova Gene: mast2 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v1.24 MAST2 Arina Puzriakova Phenotypes for gene: MAST2 were changed from Thrombophilia; venous thrombosis to Venous thromboembolism; Thrombophilia
Thrombophilia with a likely monogenic cause v1.19 MAST2 Arina Puzriakova gene: MAST2 was added
gene: MAST2 was added to Thrombophilia. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST2 were set to 33465109
Phenotypes for gene: MAST2 were set to Venous thromboembolism; Thrombophilia
Review for gene: MAST2 was set to RED
Added comment: - PMID: 33465109 (2021) - Single missense variant (p.Arg89Gln) identified in a French family with venous thrombosis and thrombophilia. Missense variant reviewed by in silico tools only. MAST2 knockdown was shown to affect regulation of TFP1 and SERPINE1 gene expression, known to regulate the haemostatic properties of endothelial cells. RNAi of MAST2 followed by RNAseq also showed expression changes in many other downstream targets.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.36 RPL27 Arina Puzriakova commented on gene: RPL27
Cytopenia - NOT Fanconi anaemia v1.36 RPL27 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: RPL27.
Severe microcephaly v2.105 PRIM1 Arina Puzriakova gene: PRIM1 was added
gene: PRIM1 was added to Severe microcephaly. Sources: Literature
watchlist tags were added to gene: PRIM1.
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950
Review for gene: PRIM1 was set to AMBER
Added comment: PRIM1 is currently not associated with any phenotype in OMIM (last edited in 2004) or Gene2Phenotype.

- PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Retinal disorders v2.172 AMACR Hannah Knight gene: AMACR was added
gene: AMACR was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897
Phenotypes for gene: AMACR were set to Retinitis pigmentosa
Penetrance for gene: AMACR were set to Complete
Mode of pathogenicity for gene: AMACR was set to Other
Review for gene: AMACR was set to GREEN
Added comment: Only three reported mutations to our knowledge:
c.154T>C; p.Ser52Pro (most common)
c.367G>A; p.Asp123Asn
c.559G>A; p.Gly187Arg

For some patients, the retinal disorder can be the first manifestation of the condition, prior to developing neurological symptoms. We believe this gene should be on the retinal disorders panel to enable a quicker diagnosis and pre-emptive referrals to neurology.
Sources: Literature
Intellectual disability v3.985 TMPRSS9 Arina Puzriakova Added comment: Comment on mode of inheritance: Rating this gene Red as second case is based on unpublished results, but with a watchlist tag as new data on this gene-disease association may become available soon.
Intellectual disability v3.985 TMPRSS9 Arina Puzriakova Mode of inheritance for gene: TMPRSS9 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.984 TMPRSS9 Arina Puzriakova gene: TMPRSS9 was added
gene: TMPRSS9 was added to Intellectual disability. Sources: Other
watchlist tags were added to gene: TMPRSS9.
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to Progressive intellectual and neurological deterioration; Global developmental delay; Intellectual disability; Autism; Epilepsy
Review for gene: TMPRSS9 was set to RED
Added comment: TMPRSS9 is currently not associated with any phenotype in OMIM or Gene2Phenotype.

- PMID: 31943016 (2020) - Single female subject with compound heterozygous nonsense variants (paternal: c.286C>T, p.R96*; maternal: c.1267C>T; p.R423*) in TMPRSS9. Early childhood development was normal until 2.5 years of age when she experienced profound developmental regression, including speech, social interaction and motor skills, resulting in ASD and profound ID. Knockout mice showed decreased social interest and recognition, and additionally borderline recognition memory deficit in aged female mice.

- Conference poster (Genomics of Rare Disease 2021) - 'ZOEMBA: combining metabolomics and genomics data to solve the unsolved' by Oud et al, United for Metabolic Diseases (UMD), Netherlands -
Trio WES revealed compound heterozygous variants (paternal: c.143-1G>A, p.?; maternal: c.1864G>A; p.V622M) in the TMPRSS9 gene in a female proband with GDD, PIND, aggression, autism and epilepsy. The individual was recruited on the basis of 'suspicion of an inherited metabolic disorder and extensive genetic and metabolic work-up with no diagnosis'.
Sources: Other
Intellectual disability v3.983 DDB1 Arina Puzriakova Classified gene: DDB1 as Amber List (moderate evidence)
Intellectual disability v3.983 DDB1 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next review - sufficient unrelated cases (8) presenting consistent features primarily characterised by ID/DD and hypotonia, supported by functional data (PMID:33743206)
Intellectual disability v3.983 DDB1 Arina Puzriakova Gene: ddb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.982 DDB1 Arina Puzriakova changed review comment from: - PMID: 33743206 (2021) - 8 unrelated individuals with de novo variants in DDB1, including one recurrent variant in four individuals (c.637G>A, p.Glu213Lys) and two different substitutions at the same amino acid residue (p.Arg188Trp and p.Arg188Gln). Clinical features were consistent and include hypotonia (7/8) and mild-moderate developmental delay or intellectual disability (8/8) and similar facial gestalt. Brachydactyly was common and most noticeable in the feet (6/8), and two individuals had cutaneous toe syndactyly. All three older individuals had a BMI in the obese range for their age. Functional studies using patient-derived lymphoblasts showed altered DDB1 function resulting in abnormal DNA damage signatures and histone methylation following UV-induced DNA damage.
Sources: Literature; to: - PMID: 33743206 (2021) - 8 unrelated individuals with de novo variants in DDB1, including one recurrent variant in four individuals (c.637G>A, p.Glu213Lys) and two different substitutions at the same amino acid residue (p.Arg188Trp and p.Arg188Gln). Clinical features were consistent and include hypotonia (7/8) and mild-moderate developmental delay or intellectual disability (8/8) and similar facial gestalt. Brachydactyly was common and most noticeable in the feet (6/8), and two individuals had cutaneous toe syndactyly. All three older individuals had a BMI in the obese range for their age. Functional studies using patient-derived lymphoblasts showed altered DDB1 function resulting in abnormal DNA damage signatures and histone methylation following UV-induced DNA damage.

Variants in other CRL4 complex components, such as CUL4B (MIM# 300304) and PHIP (MIM# 612870), have been shown to cause overlapping phenotypes consisting of syndromic ID with hypotonia and obesity.
Sources: Literature
Intellectual disability v3.982 DDB1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: DDB1.
Intellectual disability v3.982 DDB1 Arina Puzriakova gene: DDB1 was added
gene: DDB1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDB1 were set to 33743206
Phenotypes for gene: DDB1 were set to Intellectual disability
Review for gene: DDB1 was set to GREEN
Added comment: - PMID: 33743206 (2021) - 8 unrelated individuals with de novo variants in DDB1, including one recurrent variant in four individuals (c.637G>A, p.Glu213Lys) and two different substitutions at the same amino acid residue (p.Arg188Trp and p.Arg188Gln). Clinical features were consistent and include hypotonia (7/8) and mild-moderate developmental delay or intellectual disability (8/8) and similar facial gestalt. Brachydactyly was common and most noticeable in the feet (6/8), and two individuals had cutaneous toe syndactyly. All three older individuals had a BMI in the obese range for their age. Functional studies using patient-derived lymphoblasts showed altered DDB1 function resulting in abnormal DNA damage signatures and histone methylation following UV-induced DNA damage.
Sources: Literature
Intellectual disability v3.981 GSPT2 Arina Puzriakova Tag watchlist tag was added to gene: GSPT2.
Intellectual disability v3.981 GSPT2 Arina Puzriakova commented on gene: GSPT2
Early onset or syndromic epilepsy v2.309 NEUROD2 Arina Puzriakova Publications for gene: NEUROD2 were set to 30323019; 16504944
Early onset or syndromic epilepsy v2.308 NEUROD2 Arina Puzriakova edited their review of gene: NEUROD2: Changed publications: 16504944, 30323019, 33438828
Early onset or syndromic epilepsy v2.308 NEUROD2 Arina Puzriakova reviewed gene: NEUROD2: Rating: ; Mode of pathogenicity: None; Publications: 30323019, 16504944; Phenotypes: Developmental and epileptic encephalopathy 72, OMIM:618374; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v2.308 NEUROD2 Arina Puzriakova Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM# 618374 to Developmental and epileptic encephalopathy 72, OMIM:618374
Adult onset dystonia, chorea or related movement disorder v1.113 YY1 Arina Puzriakova Phenotypes for gene: YY1 were changed from Gabriele-de Vries syndrome to Gabriele-de Vries syndrome, OMIM:617557
Adult onset dystonia, chorea or related movement disorder v1.112 VAMP2 Arina Puzriakova Publications for gene: VAMP2 were set to
Adult onset dystonia, chorea or related movement disorder v1.111 VAMP2 Arina Puzriakova Mode of inheritance for gene: VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v1.110 VAMP2 Arina Puzriakova Phenotypes for gene: VAMP2 were changed from to Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760
Adult onset dystonia, chorea or related movement disorder v1.109 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to}; ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 to {?Parkinson disease 5, susceptibility to}, OMIM:613643
Adult onset dystonia, chorea or related movement disorder v1.108 TAF1 Arina Puzriakova Phenotypes for gene: TAF1 were changed from Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) to Dystonia-Parkinsonism, X-linked, OMIM:314250
Adult onset dystonia, chorea or related movement disorder v1.107 PDE2A Arina Puzriakova Phenotypes for gene: PDE2A were changed from to Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150
Adult onset dystonia, chorea or related movement disorder v1.106 PDE2A Arina Puzriakova Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v1.105 CHCHD2 Arina Puzriakova Phenotypes for gene: CHCHD2 were changed from 616710; Parkinson disease 22, autosomal dominant to Parkinson disease 22, autosomal dominant, OMIM:616710
Adult onset dystonia, chorea or related movement disorder v1.104 AUH Arina Puzriakova Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950; Dystonia to 3-methylglutaconic aciduria, type I, OMIM:250950; Dystonia
Adult onset dystonia, chorea or related movement disorder v1.103 ARX Arina Puzriakova Phenotypes for gene: ARX were changed from Partington Syndrome, OMIM:300382 to Partington Syndrome, OMIM:309510
Adult onset dystonia, chorea or related movement disorder v1.102 ARX Arina Puzriakova Phenotypes for gene: ARX were changed from Partington Syndrome, 300382; Dystonia to Partington Syndrome, OMIM:300382
Adult onset dystonia, chorea or related movement disorder v1.101 ARSA Arina Puzriakova Mode of inheritance for gene: ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v1.100 ARSA Arina Puzriakova Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, 250100; Dystonia to Metachromatic leukodystrophy, OMIM:250100
Adult onset dystonia, chorea or related movement disorder v1.99 XPR1 Arina Puzriakova Phenotypes for gene: XPR1 were changed from Basal ganglia calcification, idiopathic, 6 616413 to Basal ganglia calcification, idiopathic, 6, OMIM:616413
Adult onset dystonia, chorea or related movement disorder v1.98 WDR45 Arina Puzriakova Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration to Neurodegeneration with brain iron accumulation 5, OMIM:300894
Adult onset dystonia, chorea or related movement disorder v1.97 VPS35 Arina Puzriakova Phenotypes for gene: VPS35 were changed from PARK17; PARKINSON DISEASE 17; Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease to Parkinson disease 17, OMIM:614203
Adult onset dystonia, chorea or related movement disorder v1.96 VPS13A Arina Puzriakova Phenotypes for gene: VPS13A were changed from complex parkinsonism; Choreoacanthocytosis 200150 to Choreoacanthocytosis, OMIM:200150
Adult onset dystonia, chorea or related movement disorder v1.95 TUBB4A Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Leukodystrophy, hypomyelinating, 6, OMIM:612438
Adult onset dystonia, chorea or related movement disorder v1.95 TUBB4A Arina Puzriakova Phenotypes for gene: TUBB4A were changed from Complex parkinsonism; hypomyelinating leukodystrophy 6; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia to Dystonia 4, torsion, autosomal dominant, OMIM:128101
Adult onset dystonia, chorea or related movement disorder v1.94 TIMM8A Arina Puzriakova Publications for gene: TIMM8A were set to 22736418
Adult onset dystonia, chorea or related movement disorder v1.93 TIMM8A Arina Puzriakova Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome, 304700; Deafness-Dystonia-Optic Neuronopathy Syndrome to Mohr-Tranebjaerg syndrome, OMIM:304700
Adult onset dystonia, chorea or related movement disorder v1.92 THAP1 Arina Puzriakova Phenotypes for gene: THAP1 were changed from Dystonia 6, torsion, 602629; Dystonia to Dystonia 6, torsion, OMIM:602629
Adult onset dystonia, chorea or related movement disorder v1.91 TBK1 Arina Puzriakova Phenotypes for gene: TBK1 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
Adult onset dystonia, chorea or related movement disorder v1.90 SYNJ1 Arina Puzriakova Phenotypes for gene: SYNJ1 were changed from juvenile Parkinsonism; Early Onset Complex Disease; Parkinson disease 20, early-onset, 615530; Parkinson disease 20, early-onset to Parkinson disease 20, early-onset, OMIM:615530
Adult onset dystonia, chorea or related movement disorder v1.89 SPR Arina Puzriakova Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Adult onset dystonia, chorea or related movement disorder v1.88 SPR Arina Puzriakova Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Adult onset dystonia, chorea or related movement disorder v1.87 SPG11 Arina Puzriakova Phenotypes for gene: SPG11 were changed from Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve to Spastic paraplegia 11, autosomal recessive, OMIM:604360; Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668; Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Hypogonadotropic hypogonadism (GMS) v1.40 IL17RD Ivone Leong reviewed gene: IL17RD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS) v1.40 IL17RD Ivone Leong Tag Q2_21_MOI tag was added to gene: IL17RD.
Hypogonadotropic hypogonadism (GMS) v1.40 IL17RD Ivone Leong Phenotypes for gene: IL17RD were changed from Hypogonadotropic hypogonadism type 18 (OMIM 615267) to Hypogonadotropic hypogonadism 18 with or without anosmia, OMIM:615267
Adult onset dystonia, chorea or related movement disorder v1.86 SNCA Arina Puzriakova Phenotypes for gene: SNCA were changed from Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601 to Dementia, Lewy body, OMIM:127750; Parkinson disease 4, OMIM:605543; Parkinson disease 1, OMIM:168601
Hypogonadotropic hypogonadism (GMS) v1.39 IL17RD Ivone Leong Publications for gene: IL17RD were set to
Adult onset dystonia, chorea or related movement disorder v1.85 SLC30A10 Arina Puzriakova Phenotypes for gene: SLC30A10 were changed from Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia to Hypermanganesemia with dystonia 1, OMIM:613280
Adult onset dystonia, chorea or related movement disorder v1.84 SLC2A1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885 and {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
Adult onset dystonia, chorea or related movement disorder v1.84 SLC2A1 Arina Puzriakova Phenotypes for gene: SLC2A1 were changed from EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME 1; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia to Dystonia 9, OMIM:601042; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Adult onset dystonia, chorea or related movement disorder v1.83 SLC20A2 Arina Puzriakova Phenotypes for gene: SLC20A2 were changed from Basal ganglia calcification, idiopathic, 1 213600 to Basal ganglia calcification, idiopathic, 1, OMIM:213600
Adult onset dystonia, chorea or related movement disorder v1.82 SLC19A3 Arina Puzriakova Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), OMIM:607483
Adult onset dystonia, chorea or related movement disorder v1.81 SGCE Arina Puzriakova Phenotypes for gene: SGCE were changed from Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900 to Dystonia-11, myoclonic, OMIM:159900
Adult onset dystonia, chorea or related movement disorder v1.80 RNF216 Arina Puzriakova Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Adult onset dystonia, chorea or related movement disorder v1.79 RAB39B Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mental retardation, X-linked 72, OMIM:300271
Adult onset dystonia, chorea or related movement disorder v1.79 RAB39B Arina Puzriakova Phenotypes for gene: RAB39B were changed from Waisman syndrome 311510; early-onset parkinsonism and intellectual disability to Waisman syndrome, OMIM:311510
Adult onset dystonia, chorea or related movement disorder v1.78 PRRT2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Seizures, benign familial infantile, 2, OMIM:605751
Adult onset dystonia, chorea or related movement disorder v1.78 PRRT2 Arina Puzriakova Phenotypes for gene: PRRT2 were changed from SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS to Episodic kinesigenic dyskinesia 1, OMIM:128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066
Adult onset dystonia, chorea or related movement disorder v1.77 PRNP Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Kuru, susceptibility to}, OMIM:245300; Insomnia, fatal familial, OMIM:600072; Spongiform encephalopathy with neuropsychiatric features, OMIM:606688
Adult onset dystonia, chorea or related movement disorder v1.77 PRNP Arina Puzriakova Phenotypes for gene: PRNP were changed from Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400 to Cerebral amyloid angiopathy, PRNP-related, OMIM:137440; Huntington disease-like 1, OMIM:603218; Gerstmann-Straussler disease, OMIM:137440; Creutzfeldt-Jakob disease, OMIM:123400
Adult onset dystonia, chorea or related movement disorder v1.76 PRKRA Arina Puzriakova Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261
Adult onset dystonia, chorea or related movement disorder v1.75 PRKRA Arina Puzriakova changed review comment from: - PMID: 18420150 - a novel heterozygous variant c.266_267delAT identified in a patient with generalised dystonia

- PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previously reported cases. The authors state screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance

- PMID: 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous
25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism

- PMID: 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L)

- PMID: 22842711 - describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa

- PMID: 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; to: Copied and removed from publications field:

- PMID: 18420150 - a novel heterozygous variant c.266_267delAT identified in a patient with generalised dystonia

- PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previously reported cases. The authors state screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance

- PMID: 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous
25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism

- PMID: 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L)

- PMID: 22842711 - describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa

- PMID: 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation
Adult onset dystonia, chorea or related movement disorder v1.75 PRKRA Arina Puzriakova commented on gene: PRKRA
Adult onset dystonia, chorea or related movement disorder v1.75 PRKRA Arina Puzriakova Phenotypes for gene: PRKRA were changed from Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease; Dystonia 16; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia; Dystonia 16, 612067 to Dystonia 16, OMIM:612067
Adult onset dystonia, chorea or related movement disorder v1.74 PRKN Arina Puzriakova Publications for gene: PRKN were set to PMID: 22956510
Adult onset dystonia, chorea or related movement disorder v1.73 PRKN Arina Puzriakova Phenotypes for gene: PRKN were changed from Parkinson Disease, Juvenile; juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2; Parkinson Disease 2, Autosomal Recessive Juvenile to Parkinson disease, juvenile, type 2, OMIM:600116
Adult onset dystonia, chorea or related movement disorder v1.72 PNKD Arina Puzriakova Phenotypes for gene: PNKD were changed from Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800 to Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800
Adult onset dystonia, chorea or related movement disorder v1.71 PLA2G6 Arina Puzriakova Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378
Adult onset neurodegenerative disorder v2.174 PLA2G6 Arina Puzriakova Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1, OMIM:256600; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Parkinson disease 14, OMIM:612953 to Parkinson disease 14, autosomal recessive, OMIM:612953; Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Adult onset dystonia, chorea or related movement disorder v1.70 PLA2G6 Arina Puzriakova Phenotypes for gene: PLA2G6 were changed from PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600 to Parkinson disease 14, autosomal recessive, OMIM:612953; Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Adult onset dystonia, chorea or related movement disorder v1.69 PINK1 Arina Puzriakova Publications for gene: PINK1 were set to
Adult onset dystonia, chorea or related movement disorder v1.68 PINK1 Arina Puzriakova Phenotypes for gene: PINK1 were changed from Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia to Parkinson disease 6, early onset, OMIM:605909
Adult onset dystonia, chorea or related movement disorder v1.67 PDGFRB Arina Puzriakova Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4 615007 to Basal ganglia calcification, idiopathic, 4, OMIM:615007
Hypogonadotropic hypogonadism (GMS) v1.38 DUSP6 Ivone Leong Phenotypes for gene: DUSP6 were changed from Hypogonadotropic hypogonadism 19 with or without anosmia, MIM# 615269 to Hypogonadotropic hypogonadism 19 with or without anosmia, OMIM:615269
Hypogonadotropic hypogonadism (GMS) v1.37 LEPR Ivone Leong Tag Q2_21_rating tag was added to gene: LEPR.
Hypogonadotropic hypogonadism (GMS) v1.37 LEPR Ivone Leong Classified gene: LEPR as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.37 LEPR Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism (GMS) v1.37 LEPR Ivone Leong Gene: lepr has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.36 LEPR Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency (MIM#614963) to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Hypogonadotropic hypogonadism (GMS) v1.35 LEP Ivone Leong Classified gene: LEP as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.35 LEP Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism (GMS) v1.35 LEP Ivone Leong Gene: lep has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.34 LEP Ivone Leong Tag Q2_21_rating tag was added to gene: LEP.
Adult onset dystonia, chorea or related movement disorder v1.66 PDGFB Arina Puzriakova Publications for gene: PDGFB were set to 26129893
Adult onset dystonia, chorea or related movement disorder v1.65 PDGFB Arina Puzriakova Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Adult onset dystonia, chorea or related movement disorder v1.64 PDE10A Arina Puzriakova Publications for gene: PDE10A were set to 27058446; 27058447; 28949041; 29130591; 30345538
Hypogonadotropic hypogonadism (GMS) v1.34 LEP Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency (MIM#614962) to Obesity, morbid, due to leptin deficiency, OMIM:614962
Adult onset dystonia, chorea or related movement disorder v1.63 PDE10A Arina Puzriakova Publications for gene: PDE10A were set to 27058447; 27058446
Hypogonadotropic hypogonadism (GMS) v1.33 GNRH1 Ivone Leong commented on gene: GNRH1
Hypogonadotropic hypogonadism (GMS) v1.33 GNRH1 Ivone Leong Tag Q2_21_rating tag was added to gene: GNRH1.
Adult onset dystonia, chorea or related movement disorder v1.62 PDE10A Arina Puzriakova Phenotypes for gene: PDE10A were changed from Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921 to Striatal degeneration, autosomal dominant, OMIM:616922; Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921
Adult onset dystonia, chorea or related movement disorder v1.61 PDE10A Arina Puzriakova Tag Q2_21_rating tag was added to gene: PDE10A.
Adult onset dystonia, chorea or related movement disorder v1.61 PDE10A Arina Puzriakova commented on gene: PDE10A
Hypogonadotropic hypogonadism (GMS) v1.33 GNRH1 Ivone Leong Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 to ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841
Hypogonadotropic hypogonadism (GMS) v1.32 GNRH1 Ivone Leong Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism type 12 (OMIM 614841) to Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841
Hypogonadotropic hypogonadism (GMS) v1.31 GNRH1 Ivone Leong Publications for gene: GNRH1 were set to
Adult onset neurodegenerative disorder v2.173 VPS13C Ivone Leong Phenotypes for gene: VPS13C were changed from Parkinson disease 23, autosomal recessive, early onset; 616840 to Parkinson disease 23, autosomal recessive, early onset, OMIM:616840
Adult onset neurodegenerative disorder v2.172 TUBB4A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Leukodystrophy, hypomyelinating, 6 612438;?Dystonia 4, torsion, autosomal dominant, 128101;hypomyelinating leukodystrophy 6;Implicated autosomal dominant variants in two families with ataxia;Dystonia;Torsion dystonia 4 (128101) - some individuals with ataxia;ataxia;hereditary whispering dysphonia;Complex parkinsonism;hypomyelinating leukodystrophy 6 (612438) - ataxia reported.;Dystonia 4, torsion, autosomal dominant 128101
Adult onset neurodegenerative disorder v2.172 TUBB4A Ivone Leong Phenotypes for gene: TUBB4A were changed from Leukodystrophy, hypomyelinating, 6 612438; ?Dystonia 4, torsion, autosomal dominant, 128101; hypomyelinating leukodystrophy 6; Implicated autosomal dominant variants in two families with ataxia; Dystonia; Torsion dystonia 4 (128101) - some individuals with ataxia; ataxia; hereditary whispering dysphonia; Complex parkinsonism; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Dystonia 4, torsion, autosomal dominant 128101 to Leukodystrophy, hypomyelinating, 6, OMIM:612438; Dystonia 4, torsion, autosomal dominant, OMIM:128101
Adult onset neurodegenerative disorder v2.171 TUBA4A Ivone Leong Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
Adult onset neurodegenerative disorder v2.170 TAF1 Ivone Leong Phenotypes for gene: TAF1 were changed from Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, OMIM:314250
Adult onset neurodegenerative disorder v2.169 TAF1 Ivone Leong Phenotypes for gene: TAF1 were changed from SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, 314250
Adult onset neurodegenerative disorder v2.168 SS18L1 Ivone Leong Phenotypes for gene: SS18L1 were changed from Amyotrophic lateral sclerosis 105400 to Amyotrophic lateral sclerosis, MONDO:0004976
Adult onset neurodegenerative disorder v2.167 SS18L1 Ivone Leong Publications for gene: SS18L1 were set to 23708140; 24360741
Adult onset neurodegenerative disorder v2.166 SNCB Ivone Leong Phenotypes for gene: SNCB were changed from Dementia, Lewy body, 127750 to Dementia, Lewy body, OMIM:127750
Adult onset neurodegenerative disorder v2.165 SLC30A10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease;Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Adult onset neurodegenerative disorder v2.165 SLC30A10 Ivone Leong Phenotypes for gene: SLC30A10 were changed from hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease to Hypermanganesemia with dystonia 1, OMIM:613280
Adult onset dystonia, chorea or related movement disorder v1.61 PDE10A Arina Puzriakova Tag Q2_21_MOI tag was added to gene: PDE10A.
Adult onset neurodegenerative disorder v2.164 SIGMAR1 Ivone Leong Phenotypes for gene: SIGMAR1 were changed from Amyotrophic lateral sclerosis 16, juvenile, 614373 to ?Amyotrophic lateral sclerosis 16, juvenile, OMIM:614373
Adult onset neurodegenerative disorder v2.163 PRPH Ivone Leong Phenotypes for gene: PRPH were changed from 170710; Amyotrophic lateral sclerosis, susceptibility to to {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710
Adult onset neurodegenerative disorder v2.162 PRKRA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa;Early-Onset Generalized Dystonia-Parkinsonism;Dystonia 16;Dystonia;Dystonia 16, 612067;early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa;Early Onset Complex Disease
Adult onset neurodegenerative disorder v2.162 PRKRA Ivone Leong Phenotypes for gene: PRKRA were changed from early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Early-Onset Generalized Dystonia-Parkinsonism; Dystonia 16; Dystonia; Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Early Onset Complex Disease to Dystonia 16, OMIM:612067
Adult onset neurodegenerative disorder v2.161 NEK1 Ivone Leong Phenotypes for gene: NEK1 were changed from Amyotrophic lateral sclerosis, susceptibility to, 24; 617892 to {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892
Adult onset neurodegenerative disorder v2.160 MATR3 Ivone Leong Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21 to Amyotrophic lateral sclerosis 21, OMIM:606070
Adult onset dystonia, chorea or related movement disorder v1.61 PARK7 Arina Puzriakova Phenotypes for gene: PARK7 were changed from 606324; Parkinson disease 7 autosomal recessive early-onset to Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
Adult onset neurodegenerative disorder v2.159 MARS2 Ivone Leong Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, OMIM:611390
Adult onset dystonia, chorea or related movement disorder v1.60 PANK2 Arina Puzriakova Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1; Early Onset Complex Disease; Dystonia; 234200 to Neurodegeneration with brain iron accumulation 1, OMIM:234200
Adult onset neurodegenerative disorder v2.158 HNRNPA2B1 Ivone Leong Phenotypes for gene: HNRNPA2B1 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976; ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Adult onset neurodegenerative disorder v2.157 GIGYF2 Ivone Leong Phenotypes for gene: GIGYF2 were changed from {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688 to {Parkinson disease 11}, OMIM:607688
Adult onset neurodegenerative disorder v2.156 GCDH Ivone Leong Phenotypes for gene: GCDH were changed from Dystonia; Glutaricaciduria, type I, 231670 to Dystonia; Glutaricaciduria, type I, OMIM:231670
Adult onset dystonia, chorea or related movement disorder v1.59 NKX2-1 Arina Puzriakova Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Chorea, hereditary benign 118700 to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; Chorea, hereditary benign, OMIM:118700
Adult onset neurodegenerative disorder v2.155 GBA Ivone Leong Phenotypes for gene: GBA were changed from {Parkinson disease, late-onset, susceptibility to}, 168600; Gaucher disease, type I, 230800 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600; Gaucher disease, type I, OMIM:230800
Adult onset neurodegenerative disorder v2.154 EWSR1 Ivone Leong Phenotypes for gene: EWSR1 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976
Adult onset neurodegenerative disorder v2.153 EIF4G1 Ivone Leong Phenotypes for gene: EIF4G1 were changed from Parkinsons disease 18, 614251 to {Parkinsons disease 18}, OMIM:614251
Adult onset neurodegenerative disorder v2.152 DAO Ivone Leong Phenotypes for gene: DAO were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976
Adult onset neurodegenerative disorder v2.151 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from Multiple system atrophy, susceptibility to, 146500 to {Multiple system atrophy, susceptibility to}, OMIM:146500
Adult onset neurodegenerative disorder v2.150 CIZ1 Ivone Leong Phenotypes for gene: CIZ1 were changed from Dystonia 23, 614860 to Dystonia 23, MONDO:0013928
Adult onset neurodegenerative disorder v2.149 CIZ1 Ivone Leong Publications for gene: CIZ1 were set to
Adult onset neurodegenerative disorder v2.148 CCDC88C Ivone Leong Phenotypes for gene: CCDC88C were changed from autosomal dominant spinocerebellar ataxia to ?Spinocerebellar ataxia 40, OMIM:616053
Adult onset neurodegenerative disorder v2.147 ATP6AP2 Ivone Leong Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 to ?Parkinsonism with spasticity, X-linked, OMIM:300911; Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423
Adult onset neurodegenerative disorder v2.146 ATP2B3 Ivone Leong Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Adult onset neurodegenerative disorder v2.145 ARHGEF28 Ivone Leong Phenotypes for gene: ARHGEF28 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976
Adult onset neurodegenerative disorder v2.144 AP5Z1 Ivone Leong Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647
Adult onset neurodegenerative disorder v2.143 XPR1 Ivone Leong Phenotypes for gene: XPR1 were changed from to Basal ganglia calcification, idiopathic, 6, OMIM:605237
Adult onset neurodegenerative disorder v2.142 WDR45 Ivone Leong Phenotypes for gene: WDR45 were changed from Dystonia; beta-propeller protein-associated neurodegeneration to Dystonia; Neurodegeneration with brain iron accumulation 5, OMIM:300894
Adult onset neurodegenerative disorder v2.141 VPS35 Ivone Leong Phenotypes for gene: VPS35 were changed from Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17 to {Parkinson disease 17}, OMIM:614203
Adult onset neurodegenerative disorder v2.140 VPS13A Ivone Leong Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis, OMIM:200150 to Choreoacanthocytosis, OMIM:200150
Adult onset neurodegenerative disorder v2.139 VPS13A Ivone Leong Phenotypes for gene: VPS13A were changed from complex parkinsonism; Complex parkinsonism; 200150; Choreoacanthocytosis to Choreoacanthocytosis, OMIM:200150
Adult onset neurodegenerative disorder v2.138 VCP Ivone Leong Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; familial amyotrophic lateral sclerosis (ALS14); Amyotrophic Lateral Sclerosis, Dominant to Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
Adult onset neurodegenerative disorder v2.137 VAPB Ivone Leong Phenotypes for gene: VAPB were changed from Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant to Amyotrophic lateral sclerosis 8, OMIM:608627
Adult onset neurodegenerative disorder v2.136 UBQLN2 Ivone Leong Phenotypes for gene: UBQLN2 were changed from Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857
Adult onset neurodegenerative disorder v2.135 TYROBP Ivone Leong Phenotypes for gene: TYROBP were changed from Dementia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770
Adult onset neurodegenerative disorder v2.134 TTC19 Ivone Leong Phenotypes for gene: TTC19 were changed from Mitochondrial complex III deficiency, nuclear type 2, 615157 to Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157
Adult onset neurodegenerative disorder v2.133 TREM2 Ivone Leong Phenotypes for gene: TREM2 were changed from Dementia; Dystonia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193; Dystonia
Adult onset neurodegenerative disorder v2.132 TMEM240 Ivone Leong Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21, 607454 to Spinocerebellar ataxia 21, OMIM:607454
Adult onset neurodegenerative disorder v2.131 TBK1 Ivone Leong Phenotypes for gene: TBK1 were changed from FTLD; ALS; fronto-temporal dementia; Amyotrophic lateral sclerosis to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
Adult onset neurodegenerative disorder v2.130 TARDBP Ivone Leong Phenotypes for gene: TARDBP were changed from Amyotrophic Lateral Sclerosis, Dominant; Frontotemporal Dementia; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 to Amyotrophic lateral sclerosis 10, with or without FTD, OMIM:612069
Adult onset neurodegenerative disorder v2.129 SYNJ1 Ivone Leong Phenotypes for gene: SYNJ1 were changed from Parkinson disease 20, early-onset, 615530; Early Onset Complex Disease; juvenile Parkinsonism; Parkinson disease 20, early-onset to Parkinson disease 20, early-onset, OMIM:615530
Adult onset neurodegenerative disorder v2.128 SQSTM1 Ivone Leong Phenotypes for gene: SQSTM1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437
Adult onset neurodegenerative disorder v2.127 SPG11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
early onset parkinsonism, levo dopa responsve;Spastic paraplegia 11, autosomal recessive;Complex parkinsonism;hereditary spastic paraparesis;Early Onset Complex Disease
Adult onset neurodegenerative disorder v2.127 SPG11 Ivone Leong Phenotypes for gene: SPG11 were changed from early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease to early onset parkinsonism, levo dopa responsve; Spastic paraplegia 11, autosomal recessive, OMIM:604360; Complex parkinsonism; hereditary spastic paraparesis; Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Adult onset neurodegenerative disorder v2.126 SPAST Ivone Leong Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, OMIM:182601
Adult onset neurodegenerative disorder v2.125 SOD1 Ivone Leong Phenotypes for gene: SOD1 were changed from Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis, Dominant to Amyotrophic lateral sclerosis 1, OMIM:105400
Adult onset neurodegenerative disorder v2.124 SNCA Ivone Leong Phenotypes for gene: SNCA were changed from Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Parkinson disease 4, 605543; Parkinson disease 1, 168601; Dementia, Lewy body, 127750 to Parkinson disease 4, OMIM:605543; Parkinson disease 1, OMIM:168601; Dementia, Lewy body, OMIM:127750
Adult onset neurodegenerative disorder v2.123 SLC20A2 Ivone Leong Phenotypes for gene: SLC20A2 were changed from Dystonia; Basal ganglia calcification, idiopathic, 1, 158378 to Dystonia; Basal ganglia calcification, idiopathic, 1, OMIM:158378
Adult onset neurodegenerative disorder v2.122 SETX Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Adult onset neurodegenerative disorder v2.121 RNF216 Ivone Leong Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Adult onset neurodegenerative disorder v2.120 PSEN2 Ivone Leong Phenotypes for gene: PSEN2 were changed from Dementia to Alzheimer disease-4, OMIM:606889
Adult onset neurodegenerative disorder v2.119 PSEN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques;Dystonia;Dementia, frontotemporal, 600274;Pick disease, 172700;Clinical syndrome Alzheimer disease;Alzheimer disease, type 3, 607822;Cardiomyopathy, dilated, 1U, 613694;Alzheimer disease, type 3, with spastic paraparesis and apraxia
Adult onset neurodegenerative disorder v2.119 PSEN1 Ivone Leong Phenotypes for gene: PSEN1 were changed from Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Dystonia; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and apraxia to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822; Dystonia; Dementia, frontotemporal, OMIM:600274; Pick disease, OMIM:172700; Alzheimer disease, type 3, OMIM:607822
Adult onset neurodegenerative disorder v2.118 PRNP Ivone Leong Phenotypes for gene: PRNP were changed from Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Insomnia, fatal familial; Huntington disease-like 1; Clinical syndrome Prion disease; Dementia; Gerstmann-Straussler disease to Creutzfeldt-Jakob disease, OMIM:123400; Huntington disease-like 1, OMIM:603218; Dementia; Gerstmann-Straussler disease, OMIM:137440
Adult onset neurodegenerative disorder v2.117 PRKN Ivone Leong Phenotypes for gene: PRKN were changed from Parkinson disease, juvenile, type 2; Dystonia; Parkinson Disease 2, Autosomal Recessive Juvenile; juvenile parkinsonism/dystonia; Parkinson Disease, Juvenile to Parkinson disease, juvenile, type 2, OMIM:600116; Dystonia
Adult onset neurodegenerative disorder v2.116 PLA2G6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile neuroaxonal dystrophy 1, 256600;PLA2G6-associated neurodegeneration;Neurodegeneration with brain iron accumulation 2B, 610217;Infantile neuroaxonal dystrophy 1 (#256600);Neurodegeneration with brain iron accumulation 2B (#610217);Parkinson disease 14 (#612953);Parkinson disease 14, 612953;Early Onset Complex Disease
Adult onset neurodegenerative disorder v2.116 PLA2G6 Ivone Leong Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1, 256600; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217); Parkinson disease 14 (#612953); Parkinson disease 14, 612953; Early Onset Complex Disease to Infantile neuroaxonal dystrophy 1, OMIM:256600; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; Parkinson disease 14, OMIM:612953
Adult onset neurodegenerative disorder v2.115 PINK1 Ivone Leong Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset, 605909; Dystonia; Parkinson Disease 6, Autosomal Recessive Early-Onset to Parkinson disease 6, early onset, OMIM:605909; Dystonia
Adult onset neurodegenerative disorder v2.114 PFN1 Ivone Leong Phenotypes for gene: PFN1 were changed from Amyotrophic lateral sclerosis 18, 614808 to Amyotrophic lateral sclerosis 18, OMIM:614808
Adult onset dystonia, chorea or related movement disorder v1.58 MAPT Arina Puzriakova Phenotypes for gene: MAPT were changed from Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME to Supranuclear palsy, progressive, OMIM:601104; Supranuclear palsy, progressive atypical, OMIM:260540; {Parkinson disease, susceptibility to}, OMIM:168600; Dementia, frontotemporal, with or without parkinsonism, OMIM:600274; Pick disease, OMIM:172700
Adult onset neurodegenerative disorder v2.113 PDGFRB Ivone Leong Phenotypes for gene: PDGFRB were changed from Dystonia; Basal ganglia calcification, idiopathic, 4, 615007 to Dystonia; Basal ganglia calcification, idiopathic, 4, OMIM:615007
Adult onset neurodegenerative disorder v2.112 PDGFB Ivone Leong Phenotypes for gene: PDGFB were changed from to Basal ganglia calcification, idiopathic, 5, OMIM:615483
Adult onset neurodegenerative disorder v2.111 PARK7 Ivone Leong Phenotypes for gene: PARK7 were changed from Parkinson disease 7 autosomal recessive early-onset; 606324; Parkinson disease 7, autosomal recessive early-onset to Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
Adult onset neurodegenerative disorder v2.110 PANK2 Ivone Leong Phenotypes for gene: PANK2 were changed from Dystonia; Neurodegeneration with brain iron accumulation 1; 234200; Early Onset Complex Disease; pantothenate kinase-associated neurodegeneration to Dystonia; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Adult onset neurodegenerative disorder v2.109 OPTN Ivone Leong Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; Amyotrophic Lateral Sclerosis, Recessive to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435
Adult onset neurodegenerative disorder v2.108 NPC2 Ivone Leong Phenotypes for gene: NPC2 were changed from Dystonia; Niemann-Pick disease type C2 (#607625) to Dystonia; Niemann-Pick disease, type C2, OMIM:607625
Adult onset neurodegenerative disorder v2.107 NPC1 Ivone Leong Phenotypes for gene: NPC1 were changed from Niemann-Pick disease types C1 and D (#257220) to Niemann-Pick disease, type C1, OMIM:257220; Niemann-Pick disease, type D, OMIM:257220
Adult onset dystonia, chorea or related movement disorder v1.57 LYST Arina Puzriakova Phenotypes for gene: LYST were changed from albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500; Parkinsonism to Chediak-Higashi syndrome, OMIM:214500
Adult onset neurodegenerative disorder v2.106 NOTCH3 Ivone Leong Phenotypes for gene: NOTCH3 were changed from Dementia to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Adult onset neurodegenerative disorder v2.105 NHLRC1 Ivone Leong Phenotypes for gene: NHLRC1 were changed from Epilepsy, progressive myoclonic 2B (Lafora) 254780 to Epilepsy, progressive myoclonic 2B (Lafora), OMIM:254780
Adult onset neurodegenerative disorder v2.104 MAPT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Dementia, frontotemporal, with or without parkinsonism, 600274;Supranuclear palsy, progressive, OMIM:601104;clinical presentation suggestive of cortico-basal/PSP syndrome;Parkinson disease, susceptibility to}, OMIM:168600;Pick disease, OMIM:172700;Clinical syndrome FTLD (Frontotemporal lobar degeneration);Supranuclear palsy, progressive atypical, OMIM:260540
Adult onset neurodegenerative disorder v2.104 MAPT Ivone Leong Phenotypes for gene: MAPT were changed from Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540 to Dementia, frontotemporal, with or without parkinsonism, OMIM:600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Supranuclear palsy, progressive atypical, 260540
Adult onset dystonia, chorea or related movement disorder v1.56 LRRK2 Arina Puzriakova Phenotypes for gene: LRRK2 were changed from LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant to {Parkinson disease 8}, OMIM:607060
Adult onset dystonia, chorea or related movement disorder v1.55 KMT2B Arina Puzriakova Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset 617284; early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284
Adult onset neurodegenerative disorder v2.103 LYST Ivone Leong Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia to Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; spastic paraplegia
Adult onset neurodegenerative disorder v2.102 LYST Ivone Leong Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia to Chediak-Higashi syndrome, OMIM:214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia
Adult onset neurodegenerative disorder v2.101 LRRK2 Ivone Leong Phenotypes for gene: LRRK2 were changed from Parkinson Disease 8, Autosomal Dominant; Autosomal dominant Parkinson's disease; Parkinson Disease, Dominant; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; LRRK2 G2019S mutation; Parkinson disease 8, 607060 to LRRK2 G2019S mutation; {Parkinson disease 8}, OMIM:607060
Adult onset neurodegenerative disorder v2.100 KIF5A Ivone Leong Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, OMIM:604187
Adult onset neurodegenerative disorder v2.99 KIAA1161 Ivone Leong Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Adult onset dystonia, chorea or related movement disorder v1.54 KIAA1161 Arina Puzriakova Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive; Abnormal movements; Dystonia to Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Adult onset dystonia, chorea or related movement disorder v1.53 HPCA Arina Puzriakova Phenotypes for gene: HPCA were changed from Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia to Dystonia 2, torsion, autosomal recessive, OMIM:224500
Adult onset dystonia, chorea or related movement disorder v1.52 GTPBP2 Arina Puzriakova Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome, 617988; Dystonia to Jaberi-Elahi syndrome, OMIM:617988
Adult onset neurodegenerative disorder v2.98 KCND3 Ivone Leong Phenotypes for gene: KCND3 were changed from Spinocerebellarataxia19,607346 to Spinocerebellarataxia19, OMIM:607346
Adult onset neurodegenerative disorder v2.97 KCNC3 Ivone Leong Phenotypes for gene: KCNC3 were changed from Spinocerebellar ataxia 13 to Spinocerebellar ataxia 13, OMIM:605259
Adult onset neurodegenerative disorder v2.96 ITM2B Ivone Leong Phenotypes for gene: ITM2B were changed from Dementia, familial British, 176500 to Dementia, familial British, OMIM:176500
Adult onset neurodegenerative disorder v2.95 ITM2B Ivone Leong Publications for gene: ITM2B were set to 29525180; 10391242
Adult onset neurodegenerative disorder v2.94 HTRA1 Ivone Leong Phenotypes for gene: HTRA1 were changed from Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779 to dementia (disease), MONDO:0001627; CARASIL syndrome, OMIM:600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779
Adult onset dystonia, chorea or related movement disorder v1.51 GRN Arina Puzriakova Phenotypes for gene: GRN were changed from Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions; clinical presentation suggestive of cortico-basal/PSP syndrome to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
Adult onset neurodegenerative disorder v2.93 HNRNPA1 Ivone Leong Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426
Adult onset neurodegenerative disorder v2.92 HNRNPA1 Ivone Leong Publications for gene: HNRNPA1 were set to 23455423
Adult onset dystonia, chorea or related movement disorder v1.50 GNAL Arina Puzriakova Phenotypes for gene: GNAL were changed from adult-onset cranio-cervical dystonia; Dystonia 25, 615073 to Dystonia 25, OMIM:615073
Adult onset dystonia, chorea or related movement disorder v1.49 GFAP Arina Puzriakova Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450
Adult onset dystonia, chorea or related movement disorder v1.48 GCH1 Arina Puzriakova Phenotypes for gene: GCH1 were changed from Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD) to Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
Adult onset neurodegenerative disorder v2.91 HEXA Ivone Leong Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 to GM2-gangliosidosis, several forms, OMIM:272800; Tay-Sachs disease, OMIM:272800
Adult onset neurodegenerative disorder v2.90 GRN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
clinical presentation suggestive of cortico-basal/PSP syndrome;Complex parkinsonism;Frontotemporal Dementia;frontotemporal lobar degeneration with TDP43 inclusions;Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset neurodegenerative disorder v2.90 GRN Ivone Leong Phenotypes for gene: GRN were changed from clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; Frontotemporal Dementia; frontotemporal lobar degeneration with TDP43 inclusions; Clinical syndrome FTLD (Frontotemporal lobar degeneration) to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485
Adult onset neurodegenerative disorder v2.89 GFAP Ivone Leong Phenotypes for gene: GFAP were changed from Autosomal Dominant Ataxia; Alexander disease to Autosomal Dominant Ataxia; Alexander disease, OMIM:203450
Adult onset neurodegenerative disorder v2.88 GCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Dopa-Responsive Dystonia (DRD);progressive spastic paraplegia;Dystonia;Hyperphenylalaninemia, BH4-deficient, B, 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Spastic paraplegia
Adult onset neurodegenerative disorder v2.88 GCH1 Ivone Leong Phenotypes for gene: GCH1 were changed from Dopa-Responsive Dystonia (DRD); progressive spastic paraplegia; Dystonia; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Spastic paraplegia to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230; Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910; Spastic paraplegia
Adult onset dystonia, chorea or related movement disorder v1.47 GBA Arina Puzriakova Phenotypes for gene: GBA were changed from {Parkinson disease, late-onset, susceptibility to}, 168600 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Adult onset neurodegenerative disorder v2.87 GCH1 Ivone Leong Publications for gene: GCH1 were set to 25497597; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24509643; 24993959; 21935284
Adult onset dystonia, chorea or related movement disorder v1.46 FTL Arina Puzriakova Phenotypes for gene: FTL were changed from Neurodegeneration with brain iron accumulation 3 606159; movement disorder to Neurodegeneration with brain iron accumulation 3, OMIM:606159
Adult onset dystonia, chorea or related movement disorder v1.45 FTL Arina Puzriakova Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Adult onset neurodegenerative disorder v2.86 FUS Ivone Leong Phenotypes for gene: FUS were changed from Dementia; Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal; Amyotrophic Lateral Sclerosis, Dominant to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030
Adult onset neurodegenerative disorder v2.85 FTL Ivone Leong Phenotypes for gene: FTL were changed from Neurodegeneration with brain iron accumulation 3; movement disorder to Neurodegeneration with brain iron accumulation 3, OMIM:606159
Adult onset neurodegenerative disorder v2.84 FTL Ivone Leong Publications for gene: FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436
Adult onset neurodegenerative disorder v2.83 FIG4 Ivone Leong Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic Lateral Sclerosis, Dominant to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Amyotrophic lateral sclerosis 11, OMIM:612577
Adult onset neurodegenerative disorder v2.82 FBXO7 Ivone Leong Phenotypes for gene: FBXO7 were changed from Parkinson Disease, Recessive; Dystonia; juvenile parkinsonism; parkinsonian-pyramidal syndrome; Parkinson disease 15, autosomal recessive, 260300; Early Onset Complex Disease to Dystonia; Parkinson disease 15, autosomal recessive, OMIM:260300
Adult onset neurodegenerative disorder v2.81 EPM2A Ivone Leong Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) 254780 to Epilepsy, progressive myoclonic 2A (Lafora), OMIM:254780
Adult onset neurodegenerative disorder v2.80 ELOVL4 Ivone Leong Phenotypes for gene: ELOVL4 were changed from Spinocerebellar ataxia 34 133190 to Spinocerebellar ataxia 34, OMIM:133190
Adult onset neurodegenerative disorder v2.79 EIF2B5 Ivone Leong Phenotypes for gene: EIF2B5 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.78 EIF2B4 Ivone Leong Phenotypes for gene: EIF2B4 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.77 EIF2B3 Ivone Leong Phenotypes for gene: EIF2B3 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset dystonia, chorea or related movement disorder v1.44 FBXO7 Arina Puzriakova Phenotypes for gene: FBXO7 were changed from Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease; juvenile parkinsonism; Dystonia; parkinsonian-pyramidal syndrome to Parkinson disease 15, autosomal recessive, OMIM:260300
Adult onset neurodegenerative disorder v2.76 EIF2B2 Ivone Leong Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.75 EIF2B1 Ivone Leong Phenotypes for gene: EIF2B1 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter to Leukoencephalopathy with vanishing white matter, OMIM:603896
Adult onset neurodegenerative disorder v2.74 DNMT1 Ivone Leong Phenotypes for gene: DNMT1 were changed from Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM; 604121 to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121
Adult onset neurodegenerative disorder v2.73 DNMT1 Ivone Leong Phenotypes for gene: DNMT1 were changed from Dementia, Deafness, and Sensory Neuropathy; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM; 604121
Adult onset dystonia, chorea or related movement disorder v1.43 DNAJC6 Arina Puzriakova Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19a, juvenile-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19b, early-onset to Parkinson disease 19, juvenile-onset, OMIM:615528; Parkinson disease 19b, early-onset, OMIM:615528
Adult onset neurodegenerative disorder v2.72 DNAJC6 Ivone Leong Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19a, juvenile-onset to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a, juvenile-onset, OMIM:615528
Adult onset neurodegenerative disorder v2.71 DNAJC5 Ivone Leong Phenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 to Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350
Adult onset neurodegenerative disorder v2.70 DCTN1 Ivone Leong Phenotypes for gene: DCTN1 were changed from Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome; Neuropathy, distal hereditary motor, type VIIB; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 to Neuropathy, distal hereditary motor, type VIIB, OMIM:607641; Perry syndrome, OMIM:168605; {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400
Adult onset neurodegenerative disorder v2.69 DCTN1 Ivone Leong Publications for gene: DCTN1 were set to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952
Adult onset neurodegenerative disorder v2.68 DARS2 Ivone Leong Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Adult onset neurodegenerative disorder v2.67 CYP7B1 Ivone Leong Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Adult onset neurodegenerative disorder v2.66 CYP27A1 Ivone Leong Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, OMIM:213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Adult onset neurodegenerative disorder v2.65 CTSF Ivone Leong Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Adult onset neurodegenerative disorder v2.64 CSF1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy;Dementia;diffuse leukoencephalopathy with spheroids
Adult onset neurodegenerative disorder v2.64 CSF1R Ivone Leong Phenotypes for gene: CSF1R were changed from dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Dementia; diffuse leukoencephalopathy with spheroids to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Adult onset neurodegenerative disorder v2.63 CP Ivone Leong Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 to Dystonia; Cerebellar ataxia, OMIM:604290; Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Adult onset neurodegenerative disorder v2.62 COASY Ivone Leong Phenotypes for gene: COASY were changed from COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6, OMIM:615643
Adult onset neurodegenerative disorder v2.61 CLN6 Ivone Leong Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 to Ceroid lipofuscinosis, neuronal, 6, OMIM:601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300
Adult onset neurodegenerative disorder v2.60 CLCN2 Ivone Leong Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; Leukoencephalopathy with ataxia, 615651 to {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628; Leukoencephalopathy with ataxia, OMIM:615651
Adult onset neurodegenerative disorder v2.59 CHMP2B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
familial frontotemporal lobar degeneration (ALS17);Dystonia;Frontotemporal Dementia;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Dementia, familial, nonspecific, 600795;Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696;Amyotrophic lateral sclerosis 17, 614696
Adult onset neurodegenerative disorder v2.59 CHMP2B Ivone Leong Phenotypes for gene: CHMP2B were changed from familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal Dementia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dementia, familial, nonspecific, 600795; Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696; Amyotrophic lateral sclerosis 17, 614696 to Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795; Dystonia
Adult onset neurodegenerative disorder v2.58 CHCHD2 Ivone Leong Phenotypes for gene: CHCHD2 were changed from Parkinson disease 22, autosomal dominant; 616710 to Parkinson disease 22, autosomal dominant, OMIM:616710
Adult onset neurodegenerative disorder v2.57 CHCHD2 Ivone Leong Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114; 26705026; 26067110
Adult onset neurodegenerative disorder v2.56 CHCHD10 Ivone Leong Phenotypes for gene: CHCHD10 were changed from ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 to ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209
Adult onset neurodegenerative disorder v2.55 CCNF Ivone Leong Phenotypes for gene: CCNF were changed from Frontotemporal dementia / amyotrophic lateral sclerosis to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, OMIM:619141
Adult onset neurodegenerative disorder v2.54 CACNA1G Ivone Leong Phenotypes for gene: CACNA1G were changed from Spinocerebellar ataxia 42, 61679 to Spinocerebellar ataxia 42, OMIM:616795
Adult onset dystonia, chorea or related movement disorder v1.42 DCTN1 Arina Puzriakova Phenotypes for gene: DCTN1 were changed from Perry syndrome to Perry syndrome, OMIM:168605; Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641
Adult onset neurodegenerative disorder v2.53 C19orf12 Ivone Leong Phenotypes for gene: C19orf12 were changed from mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4; Neurodegeneration with brain iron accumulation 4 to Dystonia; neurodegeneration with brain iron accumulation-4, OMIM:614298
Adult onset neurodegenerative disorder v2.52 ATP7B Ivone Leong Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia; Wilson Disease to Wilson disease, OMIM: 277900; Dystonia
Adult onset dystonia, chorea or related movement disorder v1.41 DCAF17 Arina Puzriakova Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome; Dystonia to Woodhouse-Sakati syndrome, OMIM:241080
Adult onset neurodegenerative disorder v2.51 ATP1A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820;CAPOS syndrome;DYSTONIA 12, 128235;Dystonia-12;alternating hemiplegia of childhood;Dystonia-12, 128235;Rapid-Onset Dystonia-Parkinsonism;rapid-onset dystonia-parkinsonism;Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338);Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Adult onset neurodegenerative disorder v2.51 ATP1A3 Ivone Leong Phenotypes for gene: ATP1A3 were changed from ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; CAPOS syndrome; DYSTONIA 12, 128235; Dystonia-12; alternating hemiplegia of childhood; Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism; rapid-onset dystonia-parkinsonism; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) to ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OMIM:614820; CAPOS syndrome, OMIM:601338; DYSTONIA 12, OMIM:128235; Rapid-Onset Dystonia-Parkinsonism
Adult onset neurodegenerative disorder v2.50 ATP13A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Parkinson disease 9, 606693;Dystonia;Kufor-Rakeb syndrome;Kufor-Rakeb Syndrome;Parkinson disease;Adult-onset lower-limb predominant spastic paraparesis;Spastic paraplegia 78, autosomal recessive, 617225;complicated hereditary spastic paraplegia
Adult onset neurodegenerative disorder v2.50 ATP13A2 Ivone Leong Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia to Kufor-Rakeb syndrome, OMIM:606693; Dystonia; Spastic paraplegia 78, autosomal recessive, OMIM:617225
Adult onset neurodegenerative disorder v2.49 ARSA Ivone Leong Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy (#250100); Dystonia to Metachromatic leukodystrophy, OMIM:250100; Dystonia
Adult onset neurodegenerative disorder v2.48 APP Ivone Leong Phenotypes for gene: APP were changed from Alzheimer disease 1, familial OMIM:104300; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants OMIM:605714 to Alzheimer disease 1, familial, OMIM:104300; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714
Adult onset neurodegenerative disorder v2.47 ANXA11 Ivone Leong Phenotypes for gene: ANXA11 were changed from Amytrophic lateral sclerosis 23; 617839 to Amytrophic lateral sclerosis 23, OMIM:617839
Adult onset neurodegenerative disorder v2.46 ANG Ivone Leong Phenotypes for gene: ANG were changed from Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9) to Amyotrophic lateral sclerosis 9, 611895
Adult onset neurodegenerative disorder v2.45 ALS2 Ivone Leong Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive to Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100
Adult onset dystonia, chorea or related movement disorder v1.40 CYP27A1 Arina Puzriakova Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, CTX, 213700; Dystonia; Dystonia, including childhood & adult onset to Cerebrotendinous xanthomatosis, OMIM:213700
Adult onset dystonia, chorea or related movement disorder v1.39 CSF1R Arina Puzriakova Publications for gene: CSF1R were set to 23787135
Adult onset dystonia, chorea or related movement disorder v1.38 CSF1R Arina Puzriakova Phenotypes for gene: CSF1R were changed from dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Adult onset neurodegenerative disorder v2.44 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive; Dystonia; Spastic ataxia 5, autosomal recessive to Spinocerebellar ataxia 28, OMIM:610246; Ataxia, spastic, 5, autosomal recessive, OMIM:614487; Dystonia
Adult onset dystonia, chorea or related movement disorder v1.37 CP Arina Puzriakova Phenotypes for gene: CP were changed from Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 to Cerebellar ataxia, OMIM:604290; Hypoceruloplasminemia, hereditary, OMIM:604290; Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Adult onset neurodegenerative disorder v2.43 ABCD1 Ivone Leong Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia, MONDO:0019064; adrenal failure; VLCFA accumulation; spastic paraparesis
Adult onset dystonia, chorea or related movement disorder v1.36 CHMP2B Arina Puzriakova Phenotypes for gene: CHMP2B were changed from familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795
Hydrocephalus v2.99 WNT3 Ivone Leong Phenotypes for gene: WNT3 were changed from Tetra-amelia syndrome to ?Tetra-amelia syndrome 1, OMIM:273395
Hydrocephalus v2.98 TBC1D7 Ivone Leong Phenotypes for gene: TBC1D7 were changed from Macrocephaly/megalencephaly syndrome, autosomal recessive to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Adult onset dystonia, chorea or related movement disorder v1.35 CACNA1A Arina Puzriakova Phenotypes for gene: CACNA1A were changed from familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500 to Episodic ataxia, type 2, OMIM:108500; Spinocerebellar ataxia 6, OMIM:183086; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Hydrocephalus v2.97 SEC24D Ivone Leong Phenotypes for gene: SEC24D were changed from Cole-Carpenter syndrome 2 to Cole-Carpenter syndrome 2, OMIM:616294
Hydrocephalus v2.96 SEC24D Ivone Leong Publications for gene: SEC24D were set to 25683121
Hydrocephalus v2.95 PTCH2 Ivone Leong Phenotypes for gene: PTCH2 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Hydrocephalus v2.94 P4HB Ivone Leong Phenotypes for gene: P4HB were changed from Cole-Carpenter syndrome 1 to Cole-Carpenter syndrome 1, OMIM:112240
Hydrocephalus v2.93 P4HB Ivone Leong Publications for gene: P4HB were set to 25683117
Hydrocephalus v2.92 MTM1 Ivone Leong Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myotubular myopathy, X-linked, OMIM:310400
Hydrocephalus v2.91 MPDZ Ivone Leong Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219 to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Hydrocephalus v2.90 MPDZ Ivone Leong Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2 615219 to Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219
Hydrocephalus v2.89 KIF7 Ivone Leong Phenotypes for gene: KIF7 were changed from ?Hydrolethalus syndrome 2 614120 to ?Hydrolethalus syndrome 2, OMIM:614120
Hydrocephalus v2.88 HDAC6 Ivone Leong Phenotypes for gene: HDAC6 were changed from ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia to ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863
Hydrocephalus v2.87 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Otopalatodigital syndrome, type II to Otopalatodigital syndrome, type II, OMIM:304120
Hydrocephalus v2.86 EBP Ivone Leong Phenotypes for gene: EBP were changed from MEND syndrome to MEND syndrome, OMIM:300960
Hydrocephalus v2.85 CLIC2 Ivone Leong Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32 to ?Mental retardation, X-linked, syndromic 32, OMIM:300886
Hydrocephalus v2.84 B3GNT2 Ivone Leong Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120
Hydrocephalus v2.83 ARX Ivone Leong Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia to Hydranencephaly with abnormal genitalia, OMIM:300215
Hydrocephalus v2.82 ZIC3 Ivone Leong Phenotypes for gene: ZIC3 were changed from VACTERL association, X-linked to VACTERL association, X-linked, OMIM:314390
Hydrocephalus v2.81 ZIC2 Ivone Leong Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5 to Holoprosencephaly 5, OMIM:609637
Hydrocephalus v2.80 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome to Primrose syndrome, OMIM:259050
Hydrocephalus v2.79 WASHC5 Ivone Leong Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 to Ritscher-Schinzel syndrome 1, OMIM:220210
Hydrocephalus v2.78 USP9X Ivone Leong Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Mental retardation, X-linked 99, OMIM:300919; Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968
Neurological segmental overgrowth v1.15 PIK3CA Arina Puzriakova Phenotypes for gene: PIK3CA were changed from CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 to Cowden syndrome 5, OMIM:615108; CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Neurological segmental overgrowth v1.14 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Macrocephaly/autism syndrome, OMIM:605309
Neurological segmental overgrowth v1.13 PIK3R2 Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Neurological segmental overgrowth v1.12 PIK3CA Arina Puzriakova Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP to CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Neurological segmental overgrowth v1.11 CCND2 Arina Puzriakova Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Neurological segmental overgrowth v1.10 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes
Neurological segmental overgrowth v1.9 AKT1 Arina Puzriakova Phenotypes for gene: AKT1 were changed from Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome to Proteus syndrome, somatic, OMIM:176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome
Paediatric or syndromic cardiomyopathy v1.19 MIB1 Zornitza Stark reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057; Phenotypes: Left ventricular noncompaction 7, MIM# 615092, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus v2.77 TWIST1 Ivone Leong Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome 101400 to Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
Hydrocephalus v2.76 TMEM5 Ivone Leong Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Hydrocephalus v2.75 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3, OMIM:615314
Hydrocephalus v2.74 SUMF1 Ivone Leong Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency, OMIM:272200
Hydrocephalus v2.73 SUFU Ivone Leong Phenotypes for gene: SUFU were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Hydrocephalus v2.72 STRADA Ivone Leong Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
Hydrocephalus v2.71 SNX10 Ivone Leong Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085
Hydrocephalus v2.70 SKI Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, OMIM:182212
Hydrocephalus v2.69 RPS6KA3 Ivone Leong Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, OMIM:303600
Hydrocephalus v2.68 RNF125 Ivone Leong Phenotypes for gene: RNF125 were changed from Tenorio syndrome to Tenorio syndrome, OMIM:616260
Hydrocephalus v2.67 PTEN Ivone Leong Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome to Macrocephaly/autism syndrome, OMIM:605309
Hydrocephalus v2.66 PTCH1 Ivone Leong Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Hydrocephalus v2.65 PPP2R5D Ivone Leong Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35 to Mental retardation, autosomal dominant 35, OMIM:616355
Hydrocephalus v2.64 POMT1 Ivone Leong Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670
Hydrocephalus v2.63 POMK Ivone Leong Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Hydrocephalus v2.62 POMGNT2 Ivone Leong Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830
Hydrocephalus v2.61 POMGNT1 Ivone Leong Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280
Hydrocephalus v2.60 PLG Ivone Leong Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090
Hydrocephalus v2.59 PIK3R2 Ivone Leong Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Hydrocephalus v2.58 PIK3CA Ivone Leong Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Hydrocephalus v2.57 OSTM1 Ivone Leong Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5, OMIM:259720
Hydrocephalus v2.56 NSD1 Ivone Leong Phenotypes for gene: NSD1 were changed from Sotos syndrome 1 117550 to Sotos syndrome 1, OMIM:117550
Hydrocephalus v2.55 NF1 Ivone Leong Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, OMIM:162200
Hydrocephalus v2.54 MAN2B1 Ivone Leong Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500
Hydrocephalus v2.53 LARGE1 Ivone Leong Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
Hydrocephalus v2.52 LAMB1 Ivone Leong Phenotypes for gene: LAMB1 were changed from Lissencephaly 5 to Lissencephaly 5, OMIM:615191
Hydrocephalus v2.51 L1CAM Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Corpus callosum, partial agenesis of, OMIM:304100;CRASH syndrome, OMIM:303350;Hydrocephalus due to aqueductal stenosis, OMIM:307000;Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000;Hydrocephalus with Hirschsprung disease, OMIM:307000;MASA syndrome, OMIM:303350;X-linked Hydrocephalus with aqueductal stenosis;Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius;HSAS
Hydrocephalus v2.51 L1CAM Ivone Leong Phenotypes for gene: L1CAM were changed from Corpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis 307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000; Hydrocephalus with Hirschsprung disease 307000; MASA syndrome; X-linked Hydrocephalus with aqueductal stenosis; Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; HSAS to Corpus callosum, partial agenesis of, OMIM:304100; CRASH syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000; MASA syndrome, OMIM:303350
Hydrocephalus v2.50 KIAA1109 Ivone Leong Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome 617822 to Alkuraya-Kucinskas syndrome, OMIM:617822
Hydrocephalus v2.49 KIAA0586 Ivone Leong Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546 to Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Hydrocephalus v2.48 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
Hydrocephalus v2.47 IDS Ivone Leong Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II, OMIM:309900
Hydrocephalus v2.46 HYLS1 Ivone Leong Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome 236680 to Hydrolethalus syndrome, OMIM:236680
Hydrocephalus v2.45 HYLS1 Ivone Leong Publications for gene: HYLS1 were set to
Hydrocephalus v2.44 GUSB Ivone Leong Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII, OMIM:253220
Hydrocephalus v2.43 GPSM2 Ivone Leong Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome, OMIM:604213
Hydrocephalus v2.42 GLI3 Ivone Leong Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Greig cephalopolysyndactyly syndrome, OMIM:175700
Hydrocephalus v2.41 GFAP Ivone Leong Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450
Hydrocephalus v2.40 FLVCR2 Ivone Leong Phenotypes for gene: FLVCR2 were changed from Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790
Hydrocephalus v2.39 FKTN Ivone Leong Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
Hydrocephalus v2.38 FKRP Ivone Leong Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153
Hydrocephalus v2.37 FGFR3 Ivone Leong Phenotypes for gene: FGFR3 were changed from Achondroplasia 100800; Thanatophoric dysplasia 187600; Crouzon syndrome with acanthosis nigricans 612247; Muenke syndrome 602849 to Achondroplasia, OMIM:100800; Thanatophoric dysplasia, OMIM:187600; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Muenke syndrome, OMIM:602849
Hydrocephalus v2.36 FGFR2 Ivone Leong Phenotypes for gene: FGFR2 were changed from Apert syndrome; Crouzon syndrome to Apert syndrome, OMIM:101200; Crouzon syndrome, OMIM:123500
Hydrocephalus v2.35 FGFR1 Ivone Leong Phenotypes for gene: FGFR1 were changed from Pfeiffer syndrome 101600 to Pfeiffer syndrome, OMIM:101600
Hydrocephalus v2.34 FANCB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
VACTERL Association with Hydrocephalus;Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752;VACTERLX;Fanconi anemia, complementation group B, OMIM:300514
Hydrocephalus v2.34 FANCB Ivone Leong Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514 to Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752; Fanconi anemia, complementation group B, OMIM:300514
Hydrocephalus v2.33 FANCB Ivone Leong Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B 300514 to VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514
Hydrocephalus v2.32 FAM20C Ivone Leong Phenotypes for gene: FAM20C were changed from Raine syndrome to Raine syndrome, OMIM:259775
Hydrocephalus v2.31 ERF Ivone Leong Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4, OMIM:600775
Hydrocephalus v2.30 EML1 Ivone Leong Phenotypes for gene: EML1 were changed from Band heterotopia, 600348 to Band heterotopia, OMIM:600348
Hydrocephalus v2.29 DHCR24 Ivone Leong Phenotypes for gene: DHCR24 were changed from Desmosterolosis to Desmosterolosis, OMIM:602398
Hydrocephalus v2.28 DENND5A Ivone Leong Phenotypes for gene: DENND5A were changed from Epileptic encephalopathy, early infantile, 49 to Epileptic encephalopathy, early infantile, 49, OMIM:617281
Hydrocephalus v2.27 DAG1 Ivone Leong Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Hydrocephalus v2.26 CRB2 Ivone Leong Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease 219730 to Ventriculomegaly with cystic kidney disease, OMIM:219730
Hydrocephalus v2.25 COL4A1 Ivone Leong Phenotypes for gene: COL4A1 were changed from Porencephaly 1, OMIM:175780 to Brain small vessel disease with or without ocular anomalies, OMIM:175780
Hydrocephalus v2.24 COL4A1 Ivone Leong Phenotypes for gene: COL4A1 were changed from Porencephaly 1 175780 to Porencephaly 1, OMIM:175780
Hydrocephalus v2.23 CEP83 Ivone Leong Phenotypes for gene: CEP83 were changed from Nephronophthisis 18 615862 to Nephronophthisis 18, OMIM:615862
Severe microcephaly v2.104 PPP1R35 Arina Puzriakova Classified gene: PPP1R35 as Red List (low evidence)
Severe microcephaly v2.104 PPP1R35 Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
Severe microcephaly v2.104 PPP1R35 Arina Puzriakova Gene: ppp1r35 has been classified as Red List (Low Evidence).
Severe microcephaly v2.103 PPP1R35 Arina Puzriakova gene: PPP1R35 was added
gene: PPP1R35 was added to Severe microcephaly. Sources: Other
watchlist tags were added to gene: PPP1R35.
Mode of inheritance for gene: PPP1R35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPP1R35 were set to Primary microcephaly
Added comment: Conference poster (Genomics of Rare Disease 2021) - 'Biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly' by Dawood et al, Baylor College of Medicine -

Proband from a Turkish consanguineous family with primary microcephaly (-4.3 SD at birth, -6.1 SD by 42 months) and GDD. Brain imaging showed thinning of corpus collosum, mild cerebellar volume loss, increased extra-axial CSF spaces, pachygyria, dysmorphic ventricular system and delayed myelination of the internal capsule. Exome sequencing revealed a biallelic frameshifting indel in the PPP1R35 gene (c.753_*3delGGAAGCGTAGACCinsCG; p.Trp251Cysfs*22), resulting in deletion of the canonical stop codon in the last exon. Sequencing of unaffected parents and 2 unaffected sibs confirmed segregation with the phenotype. Droplet digital PCR demonstrated expression of mutant mRNA, with comparable gene expression levels observed for mutant and wild-type alleles in fibroblasts.

Authors note a second Iranian consanguineous family in literature with two sibs with microcephaly and the same, p.Trp251Cysfs*22 variant - however, this paper could not be found in PubMed.
Sources: Other
Hydrocephalus v2.22 CENPF Ivone Leong Phenotypes for gene: CENPF were changed from Stromme syndrome 243605 to Stromme syndrome, OMIM:243605
Hydrocephalus v2.21 CCND2 Ivone Leong Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Hydrocephalus v2.20 CCDC88C Ivone Leong Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Hydrocephalus v2.19 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 612285 to Joubert syndrome 9, OMIM:612285
Hydrocephalus v2.18 BUB1B Ivone Leong Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Hydrocephalus v2.17 B3GLCT Ivone Leong Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome 261540 to Peters-plus syndrome, OMIM:261540
Hydrocephalus v2.16 B3GALNT2 Ivone Leong Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Hydrocephalus v2.15 ARSB Ivone Leong Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI to Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
Hydrocephalus v2.14 AP1S2 Ivone Leong Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic, OMIM:5 to Mental retardation, X-linked syndromic 5, OMIM:304340
Hydrocephalus v2.13 AP1S2 Ivone Leong Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 to Mental retardation, X-linked syndromic, OMIM:5
Hydrocephalus v2.12 AKT3 Ivone Leong Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Cerebral vascular malformations v2.36 PKD2 Ivone Leong Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2 613095 to Polycystic kidney disease 2, OMIM:613095
Cerebral vascular malformations v2.35 PKD1 Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I 173900 to Polycystic kidney disease, adult type I, OMIM:173900
Cerebral vascular malformations v2.34 PCNT Ivone Leong Phenotypes for gene: PCNT were changed from Moyamoya disease; Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Moyamoya disease, MONDO:0016820; Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Cerebral vascular malformations v2.33 NF1 Ivone Leong Phenotypes for gene: NF1 were changed from Moyamoya disease; Neurofibromatosis, type 1 162200 to Moyamoya disease, MONDO:0016820; Neurofibromatosis, type 1, OMIM:162200
Cerebral vascular malformations v2.32 MYH11 Ivone Leong Phenotypes for gene: MYH11 were changed from moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900 to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, OMIM:132900
Cerebral vascular malformations v2.31 HBB Ivone Leong Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia, OMIM:603903
Cerebral vascular malformations v2.30 HBB Ivone Leong Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia 603903
Cerebral vascular malformations v2.29 GDF2 Ivone Leong Phenotypes for gene: GDF2 were changed from to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
Cerebral vascular malformations v2.28 FLVCR2 Ivone Leong Phenotypes for gene: FLVCR2 were changed from Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790
Cerebral vascular malformations v2.27 EPHB4 Ivone Leong Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2, 618196 to Capillary malformation-arteriovenous malformation 2, OMIM:618196
Cerebral vascular malformations v2.26 CEP152 Ivone Leong Phenotypes for gene: CEP152 were changed from Seckel syndrome 5 613823 to Seckel syndrome 5, OMIM:613823
Cerebral vascular malformations v2.25 CBL Ivone Leong Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Cerebral vascular malformations v2.24 ATR Ivone Leong Phenotypes for gene: ATR were changed from Seckel syndrome 1 210600 to Seckel syndrome 1, OMIM:210600
Cerebral vascular malformations v2.23 ADA2 Ivone Leong Phenotypes for gene: ADA2 were changed from Sneddon syndrome 182410; Polyarteritis nodosa to ?Sneddon syndrome, OMIM:182410; Polyarteritis nodosa, MONDO:0019170
Cerebral vascular malformations v2.22 YY1AP1 Ivone Leong Phenotypes for gene: YY1AP1 were changed from Grange syndrome, 602531 to Grange syndrome, OMIM:602531
Cerebral vascular malformations v2.21 SMAD4 Ivone Leong Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Cerebral vascular malformations v2.20 SLC2A10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Arterial tortuosity syndrome;Moyamoya disease;208050
Cerebral vascular malformations v2.20 SLC2A10 Ivone Leong Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome; Moyamoya disease; 208050 to Arterial tortuosity syndrome, OMIM:208050
Cerebral vascular malformations v2.19 SAMHD1 Ivone Leong Phenotypes for gene: SAMHD1 were changed from Moyamoya disease to Moyamoya disease, MONDO:0016820
Cerebral vascular malformations v2.18 RNF213 Ivone Leong Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to {Moyamoya disease 2, susceptibility to}, OMIM:607151
Cerebral vascular malformations v2.17 RASA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Capillary malformation-arteriovenous malformation 1, OMIM:608354;Parkes Weber syndrome, 608355;Parkes Weber syndrome (PKWS);Capillary Malformation-Arteriovenous Malformation Syndrome;Parkes Weber Syndrome;Parkes Weber syndrome
Cerebral vascular malformations v2.17 RASA1 Ivone Leong Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation, 608354; Parkes Weber syndrome, 608355; Parkes Weber syndrome (PKWS); Capillary Malformation-Arteriovenous Malformation Syndrome; Parkes Weber Syndrome; Parkes Weber syndrome to Capillary malformation-arteriovenous malformation 1, OMIM:608354
Cerebral vascular malformations v2.16 PDCD10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations 3, 603285;Cerebral Cavernous Malformation;Cerebral cavernous malformations 3;Cerebral Cavernous Malformations;Familial Cerebral Cavernous Malformation
Cerebral vascular malformations v2.16 PDCD10 Ivone Leong Phenotypes for gene: PDCD10 were changed from Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Cerebral cavernous malformations 3; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation to Cerebral cavernous malformations 3, OMIM:603285
Cerebral vascular malformations v2.15 KRIT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations-1, 116860 ;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860;Cerebral Cavernous Malformation;Cerebral cavernous malformations 1 ;Cerebral Cavernous Malformations;Familial Cerebral Cavernous Malformation;Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
Cerebral vascular malformations v2.15 KRIT1 Ivone Leong Phenotypes for gene: KRIT1 were changed from Cerebral cavernous malformations-1, 116860 ; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral Cavernous Malformation; Cerebral cavernous malformations 1 ; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas to Cerebral cavernous malformations-1, OMIM:116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860; Cavernous malformations of CNS and retina, OMIM:116860
Cerebral vascular malformations v2.14 GUCY1A3 Ivone Leong Phenotypes for gene: GUCY1A3 were changed from Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750 to Moyamoya 6 with achalasia, OMIM:615750
Cerebral vascular malformations v2.13 ENG Ivone Leong Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 187300 to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Cerebral vascular malformations v2.12 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Cerebral vascular malformations v2.11 CCM2 Ivone Leong Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations-2 603284; Capillary malformation-arteriovenous malformation 608354 to Cerebral cavernous malformations-2, OMIM:603284
Cerebral vascular malformations v2.10 ACVRL1 Ivone Leong Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM; 600376
Cerebral vascular malformations v2.9 ACTA2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834
Cerebral vascular malformations v2.9 ACTA2 Ivone Leong Phenotypes for gene: ACTA2 were changed from Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834 to Moyamoya disease 5, OMIM:614042
Hereditary neuropathy or pain disorder v1.25 DHX9 Arina Puzriakova Classified gene: DHX9 as Red List (low evidence)
Hereditary neuropathy or pain disorder v1.25 DHX9 Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
Hereditary neuropathy or pain disorder v1.25 DHX9 Arina Puzriakova Gene: dhx9 has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v1.24 DHX9 Arina Puzriakova gene: DHX9 was added
gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other
watchlist tags were added to gene: DHX9.
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy
Added comment: Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine -

Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV.
Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented.

These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time.

Baylor College of Medicine POC: Dr. Daniel Calame, [email protected]
Sources: Other
Thrombophilia with a likely monogenic cause v1.18 PROZ Arina Puzriakova Phenotypes for gene: PROZ were changed from 614024 Protein Z deficiency to Protein Z deficiency, OMIM:614024
Thrombophilia with a likely monogenic cause v1.17 PROCR Arina Puzriakova Publications for gene: PROCR were set to
Thrombophilia with a likely monogenic cause v1.16 PLAT Arina Puzriakova Phenotypes for gene: PLAT were changed from 612348 Thrombophilia, due to decreased release of PLAT; 612348 Thrombophilia, familial, due to decreased release of PLAT to Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348
Thrombophilia with a likely monogenic cause v1.15 THBD Arina Puzriakova Phenotypes for gene: THBD were changed from 614486 Thrombophilia due to thrombomodulin defect to Thrombophilia due to thrombomodulin defect, OMIM:614486
Thrombophilia with a likely monogenic cause v1.14 SERPIND1 Arina Puzriakova Phenotypes for gene: SERPIND1 were changed from 612356 Thrombophilia due to heparin cofactor II deficiency to Thrombophilia due to heparin cofactor II deficiency, OMIM:612356
Thrombophilia with a likely monogenic cause v1.13 SERPINC1 Arina Puzriakova Phenotypes for gene: SERPINC1 were changed from 613118 Thrombophilia due to antithrombin III deficiency to Thrombophilia due to antithrombin III deficiency, OMIM:613118
Thrombophilia with a likely monogenic cause v1.12 PROS1 Arina Puzriakova Phenotypes for gene: PROS1 were changed from 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive to Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336; Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
Adult onset dystonia, chorea or related movement disorder v1.34 C19orf12 Sarah Leigh Added comment: Comment on phenotypes: neurodegeneration with brain iron accumulation-4;mitochondrial membrane protein-associated neurodegeneration;Dystonia
Adult onset dystonia, chorea or related movement disorder v1.34 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to ?Spastic paraplegia 43, autosomal recessive OMIM:615043; hereditary spastic paraplegia 43 MONDO:0014024; Neurodegeneration with brain iron accumulation 4 OMIM:614298; neurodegeneration with brain iron accumulation 4 MONDO:0013674
Adult onset dystonia, chorea or related movement disorder v1.33 ATP7B Sarah Leigh Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia to Wilson disease OMIM:277900; Wilson disease MONDO:0010200
Adult onset dystonia, chorea or related movement disorder v1.32 ATP1A3 Sarah Leigh Phenotypes for gene: ATP1A3 were changed from CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12 to Alternating hemiplegia of childhood 2 OMIM:614820; alternating hemiplegia of childhood 2 MONDO:0013900; CAPOS syndrome OMIM:601338; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038; Dystonia-12 OMIM:128235; dystonia 12 MONDO:0007496
Adult onset dystonia, chorea or related movement disorder v1.31 ATP1A2 Sarah Leigh Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 to familial basilar migraine OMIM:602481; familial hemiplegic migraine type 2 OMIM:602481; migraine, familial hemiplegic, 2 MONDO:0011232; alternating hemiplegia of childhood OMIM:104290; alternating hemiplegia of childhood 1 MONDO:0007087
Hypogonadotropic hypogonadism (GMS) v1.30 KLB Ivone Leong Classified gene: KLB as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.30 KLB Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene is Green on the Hypogonadotropic hypogonadism (Version 1.29) panel and have the following review:

"Rachel Jones (GSTT)

Green List (high evidence)

Publication by Pitteloud et al:
"Genetic screening of 334 CHH patients identified seven heterozygous loss‐of‐function KLB mutations in 13 patients (4%). Most patients with KLB mutations (9/13) exhibited metabolic defects. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21."
They also included functional analysis and showed decreased activity in response to FGF21 and FGF8
KLB is an obligate coreceptor for FGF21 alongside FGFR1
Created: 10 Mar 2020, 10:55 a.m. | Last Modified: 10 Mar 2020, 10:55 a.m.
Panel Version: 1.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypogonadotrophic hypogonadism

Publications

PMID: 28754744

Created: 10 Mar 2020, 10:55 a.m.
Last Modified: 10 Mar 2020, 10:55 a.m.
Panel version: 1.27"

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism (GMS) v1.30 KLB Ivone Leong Gene: klb has been classified as Amber List (Moderate Evidence).
Adult onset dystonia, chorea or related movement disorder v1.30 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome to Kufor-Rakeb Syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Hypogonadotropic hypogonadism (GMS) v1.29 KLB Ivone Leong Tag Q2_21_rating tag was added to gene: KLB.
Adult onset dystonia, chorea or related movement disorder v1.29 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Ataxia-telangiectasia OMIM:208900 to Ataxia-telangiectasia OMIM:208900; ataxia telangiectasia MONDO:0008840
Adult onset dystonia, chorea or related movement disorder v1.28 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia OMIM:208900
Hypogonadotropic hypogonadism (GMS) v1.29 KLB Ivone Leong Publications for gene: KLB were set to
Adult onset dystonia, chorea or related movement disorder v1.27 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920; ataxia with oculomotor apraxia type 1 MONDO:0008842
Hypogonadotropic hypogonadism (GMS) v1.28 SOX10 Ivone Leong Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770
Adult onset dystonia, chorea or related movement disorder v1.26 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Dystonia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
Adult onset dystonia, chorea or related movement disorder v1.25 ANO3 Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Hypogonadotropic hypogonadism (GMS) v1.27 SOX10 Ivone Leong Classified gene: SOX10 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.27 SOX10 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel.
Hypogonadotropic hypogonadism (GMS) v1.27 SOX10 Ivone Leong Gene: sox10 has been classified as Amber List (Moderate Evidence).
Adult onset dystonia, chorea or related movement disorder v1.24 ANO3 Sarah Leigh Added comment: Comment on publications: 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor;24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis
Adult onset dystonia, chorea or related movement disorder v1.24 ANO3 Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Adult onset dystonia, chorea or related movement disorder v1.23 ANO3 Sarah Leigh Phenotypes for gene: ANO3 were changed from familial form of cranio-cervical dystonia; Dystonia 24, 615034 to Dystonia 24 OMIM:615034; dystonia 24 MONDO:0014019
Adult onset dystonia, chorea or related movement disorder v1.22 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Hypogonadotropic hypogonadism (GMS) v1.26 SOX10 Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981
Hypogonadotropic hypogonadism (GMS) v1.25 SOX10 Ivone Leong Tag Q2_21_rating tag was added to gene: SOX10.
Hypogonadotropic hypogonadism (GMS) v1.25 SOX10 Ivone Leong Added comment: Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome.
Hypogonadotropic hypogonadism (GMS) v1.25 SOX10 Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559
Hypogonadotropic hypogonadism (GMS) v1.24 NSMF Ivone Leong Classified gene: NSMF as Red List (low evidence)
Hypogonadotropic hypogonadism (GMS) v1.24 NSMF Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red as per my previous comment.
Hypogonadotropic hypogonadism (GMS) v1.24 NSMF Ivone Leong Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism (GMS) v1.23 NSMF Ivone Leong Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Hypogonadotropic hypogonadism (GMS) v1.22 NSMF Ivone Leong reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 27803842; Phenotypes: ; Mode of inheritance: None
Adult onset dystonia, chorea or related movement disorder v1.21 ACTB Sarah Leigh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, OMIM:607371; developmental malformations-deafness-dystonia syndrome MONDO:0011823; Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh edited their review of gene: VPS33A: Added comment: This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts on this gene, which has a founder variant together with supportive functional studies.; Changed rating: GREEN
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian poputation. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh Tag Q2_21_expert_review tag was added to gene: VPS33A.
Hypogonadotropic hypogonadism (GMS) v1.22 SOX10 Ivone Leong Publications for gene: SOX10 were set to
Undiagnosed metabolic disorders v1.449 GNE Sarah Leigh Phenotypes for gene: GNE were changed from UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders); Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Likely inborn error of metabolism v2.103 GNE Sarah Leigh Added comment: Comment on phenotypes: Nonaka myopathy 605820;Sialuria (Other lysosomal disorders);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism v2.103 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria (Other lysosomal disorders); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.70 GNE Sarah Leigh Publications for gene: GNE were set to
Undiagnosed metabolic disorders v1.448 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.102 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.102 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v2.101 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Lysosomal storage disorder v1.69 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v1.69 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v1.68 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Early onset or syndromic epilepsy v2.307 SLC7A6OS Sarah Leigh Added comment: Comment on phenotypes: Based on the phenotypic spectrum reported in PMID 33085104, this gene may be suitable for additional panels.
Early onset or syndromic epilepsy v2.307 SLC7A6OS Sarah Leigh Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12 OMIM:619191
Hypogonadotropic hypogonadism (GMS) v1.21 NSMF Ivone Leong Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Hypogonadotropic hypogonadism (GMS) v1.20 NSMF Ivone Leong Publications for gene: NSMF were set to
Early onset or syndromic epilepsy v2.306 SLC7A6OS Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104).; to: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two families, shown to share common ancestors by haplotype analysis (PMID 33085104).
Rare genetic inflammatory skin disorders v1.38 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Rare genetic inflammatory skin disorders v1.37 ABCC6 Ivone Leong Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448
Rare genetic inflammatory skin disorders v1.35 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from HyperIgE syndrome; ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT to Hyper-IgE recurrent infection syndrome, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Rare genetic inflammatory skin disorders v1.33 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
Rare genetic inflammatory skin disorders v1.32 SH3PXD2B Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420
Rare genetic inflammatory skin disorders v1.31 SAMHD1 Ivone Leong Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
Rare genetic inflammatory skin disorders v1.30 RAG2 Ivone Leong Phenotypes for gene: RAG2 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.29 RAG1 Ivone Leong Phenotypes for gene: RAG1 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.28 PSENEN Ivone Leong Phenotypes for gene: PSENEN were changed from ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
Rare genetic inflammatory skin disorders v1.27 OSMR Ivone Leong Phenotypes for gene: OSMR were changed from Amyloidosis cutis; PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250
Rare genetic inflammatory skin disorders v1.26 NSDHL Ivone Leong Phenotypes for gene: NSDHL were changed from CHILD syndrome; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS to CHILD syndrome, OMIM:308050
Rare genetic inflammatory skin disorders v1.25 NOD2 Ivone Leong Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
Rare genetic inflammatory skin disorders v1.24 NLRP3 Ivone Leong Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115
Rare genetic inflammatory skin disorders v1.23 NCSTN Ivone Leong Phenotypes for gene: NCSTN were changed from ACNINV1; ACNE INVERSA, FAMILIAL, 1 to ACNE INVERSA, FAMILIAL, 1, OMIM:142690
Rare genetic inflammatory skin disorders v1.22 MVD Ivone Leong Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES; POROK7 to POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714
Rare genetic inflammatory skin disorders v1.21 KIT Ivone Leong Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
Rare genetic inflammatory skin disorders v1.20 IL36RN Ivone Leong Phenotypes for gene: IL36RN were changed from PSORS14; PSORIASIS 14, PUSTULAR; Recurrent pustular psoriasis to PSORIASIS 14, PUSTULAR, OMIM:614204
Rare genetic inflammatory skin disorders v1.19 IL1RN Ivone Leong Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP; Recurrent pustular psoriasis to OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852
Rare genetic inflammatory skin disorders v1.18 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Rare genetic inflammatory skin disorders v1.17 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
Rare genetic inflammatory skin disorders v1.16 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525
Rare genetic inflammatory skin disorders v1.15 FDPS Ivone Leong Phenotypes for gene: FDPS were changed from POROKERATOSIS 9, MULTIPLE TYPES to POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
Rare genetic inflammatory skin disorders v1.14 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 to INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481
Rare genetic inflammatory skin disorders v1.13 DOCK8 Ivone Leong Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive to Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
Rare genetic inflammatory skin disorders v1.12 CARD9 Ivone Leong Phenotypes for gene: CARD9 were changed from Deep dermatophytosis to Deep dermatophytosis, MONDO:0018335
Rare genetic inflammatory skin disorders v1.11 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris; susceptibility to psoriasis to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
Rare genetic inflammatory skin disorders v1.10 CARD11 Ivone Leong Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Multiple monogenic benign skin tumours v1.12 PMS2 Ivone Leong Phenotypes for gene: PMS2 were changed from Muir Torre to Muir-Torre syndrome, MONDO:0008018
Multiple monogenic benign skin tumours v1.11 MSH6 Ivone Leong Phenotypes for gene: MSH6 were changed from Muir-Torre syndrome to Muir-Torre syndrome, MONDO:0008018
Multiple monogenic benign skin tumours v1.10 MSH2 Ivone Leong Phenotypes for gene: MSH2 were changed from to Muir-Torre syndrome, OMIM:158320
Multiple monogenic benign skin tumours v1.9 MLH1 Ivone Leong Phenotypes for gene: MLH1 were changed from to Muir-Torre syndrome, OMIM:158320
Multiple monogenic benign skin tumours v1.8 LEMD3 Ivone Leong Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME to Osteopoikilosis with or without melorheostosis, OMIM:166700; BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
Multiple monogenic benign skin tumours v1.7 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Birt-Hogg-Dub syndrome to Birt-Hogg-Dub syndrome, OMIM:135150
Multiple monogenic benign skin tumours v1.6 CYLD Ivone Leong Phenotypes for gene: CYLD were changed from Familial cylindromatosis, Multiple familial trichoepitheliomas to Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
Epidermolysis bullosa and congenital skin fragility v1.48 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Epidermolysis bullosa and congenital skin fragility v1.47 EGFR Ivone Leong Publications for gene: EGFR were set to
Epidermolysis bullosa and congenital skin fragility v1.46 DSG3 Ivone Leong Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
Epidermolysis bullosa and congenital skin fragility v1.45 DSC3 Ivone Leong Phenotypes for gene: DSC3 were changed from to ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Epidermolysis bullosa and congenital skin fragility v1.44 DSC3 Ivone Leong Publications for gene: DSC3 were set to
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
[Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Epidermolysis bullosa and congenital skin fragility v1.42 ATP2A2 Ivone Leong Phenotypes for gene: ATP2A2 were changed from to Darier disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v1.41 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome,MONDO:0012345
Epidermolysis bullosa and congenital skin fragility v1.40 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, 609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome
Epidermolysis bullosa and congenital skin fragility v1.39 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Epidermolysis bullosa and congenital skin fragility v1.38 SPINK5 Ivone Leong Publications for gene: SPINK5 were set to
Epidermolysis bullosa and congenital skin fragility v1.37 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, OMIM:201100
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Peeling skin syndrome 5, 617115;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Phenotypes for gene: SERPINB8 were changed from Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 5, OMIM:617115
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa with Muscular Dystrophy;Epidermolysis bullosa simplex, Ogna type (AD), 131950;Epidermolysis Bullosa Simplex, Ogna Type;Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex with pyloric atresia (AR), 612138;Epidermolysis bullosa simplex including Ogna variant;Epidermolysis Bullosa Simplex With Muscular Dystrophy;Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis Bullosa Simplex, Ogna Type; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex With Muscular Dystrophy; Epidermolysis Bullosa Simplex With Pyloric Atresia to Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Phenotypes for gene: PKP1 were changed from Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa to Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Shabbir syndrome;Epidermolysis bullosa, junctional, non-Herlitz type;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Junctional Epidermolysis Bullosa;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, generalized atrophic benign, OMIM:226650; Laryngoonychocutaneous syndrome, OMIM:245660
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa Simplex, Dowling-Meara Type;Epidermolysis Bullosa Simplex;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex with mottled pigmentation, 131960;Epidermolysis Bullosa Simplex, Localized;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Phenotypes for gene: KRT5 were changed from Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Epidermolysis bullosa simplex, Koebner type, OMIM:131900; Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960; Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Dermatopathia pigmentosa reticularis (AD), 125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Epidermolysis Bullosa Simplex, Localized
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800; Dermatopathia pigmentosa reticularis (AD), OMIM:125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000; Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760; Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
Epidermolysis bullosa and congenital skin fragility v1.28 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.27 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.26 KLHL24 Ivone Leong Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex (autosomal dominant) to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Added comment: Comment on publications: Previous publications:
99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Junctional Epidermolysis bullosa;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Phenotypes for gene: ITGA3 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Epidermolysis bullosa and congenital skin fragility v1.20 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
Epidermolysis bullosa and congenital skin fragility v1.19 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM:618084
Epidermolysis bullosa and congenital skin fragility v1.18 FERMT1 Ivone Leong Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650
Epidermolysis bullosa and congenital skin fragility v1.17 EXPH5 Ivone Leong Phenotypes for gene: EXPH5 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex to Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Epidermolysis bullosa and congenital skin fragility v1.16 DST Ivone Leong Phenotypes for gene: DST were changed from Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 to Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, lethal acantholytic, 609638;Severe generalised Epidermolysis bullosa simplex;Skin fragility-woolly hair syndrome,607655;Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa to Epidermolysis bullosa, lethal acantholytic, OMIM:609638
Epidermolysis bullosa and congenital skin fragility v1.14 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Epidermolysis bullosa and congenital skin fragility v1.13 CSTA Ivone Leong Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperhidrosis HP:0000975;Peeling skin HP:0040189;OMIM:607936;erythema HP:0010783;Peeling skin syndrome 4, 607936;palmoplantar hyperkeratosis HP:0007530;Hyperkeratosis HP:0000962;Erythroderma HP:0001019;Lichenification HP:0100725;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Phenotypes for gene: CSTA were changed from Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 4, OMIM:607936
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa dystrophica (AD), 131750;Epidermolysis bullosa, pretibial (AR,AD), 131850;Epidermolysis bullosa dystrophica (AR), 226600;EBD, Bart type (AD), 132000;Dystrophic Epidermolysis Bullosa;Transient bullous of the newborn (AR,AD), 131705;EBD inversa (AR), 226600
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa, pretibial (AR,AD), 131850; Epidermolysis bullosa dystrophica (AR), 226600; EBD, Bart type (AD), 132000; Dystrophic Epidermolysis Bullosa; Transient bullous of the newborn (AR,AD), 131705; EBD inversa (AR), 226600 to Epidermolysis bullosa dystrophica (AD), OMIM:131750; Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850; Epidermolysis bullosa dystrophica (AR), OMIM:226600; EBD, Bart type (AD), OMIM:132000; Epidermolysis bullosa pruriginosa, OMIM:604129; Transient bullous of the newborn (AR,AD), OMIM:131705; EBD inversa (AR), OMIM:226600
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
OMIM:#270300;Peeling skin HP:0040189;erythema HP:0010783;Allergy HP:0012393;Peeling skin syndrome 1, 270300;Hyperkeratosis HP:0000962.;Generalised erythroderma HP:0001019;PSS1;Increased IgE level HP:0003212;Pruritus HP:0000989
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Phenotypes for gene: CDSN were changed from OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989 to Peeling skin syndrome 1, OMIM:270300
Epidermolysis bullosa and congenital skin fragility v1.8 CDSN Ivone Leong Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;Leukonychia HP:0001820;OMIM:#616295;Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295;Punctate palmoplantar hyperkeratosis HP:0007530;Knuckle pads.;Cheilitis HP:0100825
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Epidermolysis bullosa and congenital skin fragility v1.6 CAST Ivone Leong Publications for gene: CAST were set to PMID: 25683118
Epidermolysis bullosa and congenital skin fragility v1.5 ATP2C1 Ivone Leong Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600
Osteopetrosis v1.26 TNFRSF11A Eleanor Williams Added comment: Comment on phenotypes: Removing Osteolysis, familial expansile OMIM:174810 as a phenotype as it doesn't seem to have a osteopetrosis type element.
Osteopetrosis v1.26 TNFRSF11A Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 to {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301
Familial hypercholesterolaemia (GMS) v1.9 GCKR Sarah Leigh gene: GCKR was added
gene: GCKR was added to Familial hypercholesterolaemia - targeted panel. Sources: Other
Mode of inheritance for gene: GCKR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GCKR were set to familial hypercholesterolemia MONDO:0005439
Review for gene: GCKR was set to RED
Added comment: Personal communication from Mafalda Bourbon, Head of the Cardiovascular Research Group, National Iinstitue of Health Dr Ricardo Jorge, Lisbon, Portugal: Two different heterozygous nonsense variants found in two FH patients, who were negative for variants in LDLR, APOB and PCSK9.
Sources: Other
Hypogonadotropic hypogonadism (GMS) v1.19 FGF17 Ivone Leong Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270
Hypogonadotropic hypogonadism (GMS) v1.18 TCF12 Ivone Leong Classified gene: TCF12 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.18 TCF12 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism (GMS) v1.18 TCF12 Ivone Leong Gene: tcf12 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.17 TCF12 Ivone Leong Tag Q2_21_rating tag was added to gene: TCF12.
Hypogonadotropic hypogonadism (GMS) v1.17 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800
Hypogonadotropic hypogonadism (GMS) v1.16 IGSF10 Ivone Leong Tag watchlist tag was added to gene: IGSF10.
Hypogonadotropic hypogonadism (GMS) v1.16 IGSF10 Ivone Leong Classified gene: IGSF10 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.16 IGSF10 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so therefore this gene has been given an Amber rating.
Hypogonadotropic hypogonadism (GMS) v1.16 IGSF10 Ivone Leong Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.306 PIGU Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; myoclonic seizures; focal myoclonic seizures; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
Intellectual disability v3.981 PIGU Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
Ichthyosis and erythrokeratoderma v1.60 SMARCAD1 Ivone Leong Phenotypes for gene: SMARCAD1 were changed from Basan syndrome, 129200; palmoplantar keratoderma to Basan syndrome, OMIM:129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.59 KRT2 Ivone Leong Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
Ichthyosis and erythrokeratoderma v1.57 TGM1 Ivone Leong Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 to Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar hyperkeratosis;KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Phenotypes for gene: TAT were changed from palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600 to Tyrosinemia, type II, OMIM:276600
Ichthyosis and erythrokeratoderma v1.55 STS Ivone Leong Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100
Ichthyosis and erythrokeratoderma v1.54 ST14 Ivone Leong Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400 to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
Ichthyosis and erythrokeratoderma v1.53 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM: 256500
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Phenotypes for gene: SLURP1 were changed from keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300 to Meleda disease, OMIM:248300
Ichthyosis and erythrokeratoderma v1.50 SLC27A4 Ivone Leong Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome, 608649 to Ichthyosis prematurity syndrome, OMIM:608649
Ichthyosis and erythrokeratoderma v1.49 SERPINB7 Ivone Leong Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
Ichthyosis and erythrokeratoderma v1.48 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar keratoderma;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Phenotypes for gene: RSPO1 were changed from palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644; Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Howel-Evans syndrome;tylosis with oesophageal cancer;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;oral leukokeratosis;Focal keratoderma;Hyperkeratosis, diffuse palmoplantar (tylosis);tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Phenotypes for gene: RHBDF2 were changed from Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER to Tylosis with esophageal cancer, OMIM:148500
Ichthyosis and erythrokeratoderma v1.45 PNPLA1 Ivone Leong Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Ichthyosis and erythrokeratoderma v1.44 PIGL Ivone Leong Phenotypes for gene: PIGL were changed from to CHIME syndrome, OMIM:280000
Ichthyosis and erythrokeratoderma v1.43 NIPAL4 Ivone Leong Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Ichthyosis and erythrokeratoderma v1.42 LOR Ivone Leong Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Focal keratoderma;Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;dystrophic nails
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Phenotypes for gene: KRT6C were changed from Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Pachyonychia congenital;Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Phenotypes for gene: KRT6A were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1 to Pachyonychia congenita 3, OMIM:615726
Ichthyosis and erythrokeratoderma v1.37 KRT17 Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype:
Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.32 KDSR Ivone Leong Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4, 617526 to Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Thrombophilia with a likely monogenic cause v1.11 PROC Arina Puzriakova Phenotypes for gene: PROC were changed from 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant to Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304; Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
Ichthyosis and erythrokeratoderma v1.29 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Ichthyosis and erythrokeratoderma v1.25 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084
Ichthyosis and erythrokeratoderma v1.24 FLG Ivone Leong Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700
Ichthyosis and erythrokeratoderma v1.23 ENPP1 Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.22 DSP Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
Thrombophilia with a likely monogenic cause v1.10 HRG Arina Puzriakova Phenotypes for gene: HRG were changed from 613116 Thrombophilia due to HRG deficiency to Thrombophilia due to HRG deficiency, OMIM:613116
Ichthyosis and erythrokeratoderma v1.20 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Arrhythmogenic right ventricular dysplasia 11, 610476;Striate keratoderma with woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Ichthyosis and erythrokeratoderma v1.18 CYP4F22 Ivone Leong Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
Ichthyosis and erythrokeratoderma v1.17 CERS3 Ivone Leong Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
Ichthyosis and erythrokeratoderma v1.16 CLDN1 Ivone Leong Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Ichthyosis and erythrokeratoderma v1.15 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Ichthyosis and erythrokeratoderma v1.14 CAST Ivone Leong Publications for gene: CAST were set to
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
familial pityriasis rubra pilaris;Pityriasis rubra pilaris, 173200;keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200
Ichthyosis and erythrokeratoderma v1.12 AQP5 Ivone Leong Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type, 600231 to Palmoplantar keratoderma, Bothnian type, OMIM:600231
Ichthyosis and erythrokeratoderma v1.11 ALOX12B Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.10 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
Ichthyosis and erythrokeratoderma v1.8 ABCA12 Ivone Leong Phenotypes for gene: ABCA12 were changed from Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 to Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500; Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratoderma
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
Thrombophilia with a likely monogenic cause v1.9 FGG Arina Puzriakova Phenotypes for gene: FGG were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Hypodysfibrinogenemia, OMIM:616004; Thrombophilia, MONDO:0002305
Thrombophilia with a likely monogenic cause v1.8 FGB Arina Puzriakova Phenotypes for gene: FGB were changed from 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Thrombophilia, MONDO:0002305
Thrombophilia with a likely monogenic cause v1.7 FGA Arina Puzriakova Phenotypes for gene: FGA were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Hypodysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital to 202400 Afibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital
Cytopenia - NOT Fanconi anaemia v1.36 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Cytopenias and congenital anaemias v1.84 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Atypical haemolytic uraemic syndrome v2.8 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Bleeding and platelet disorders v1.23 ADAMTS13 Arina Puzriakova Publications for gene: ADAMTS13 were set to 15009458; 11586351; 12753286
Thrombophilia with a likely monogenic cause v1.6 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Thrombophilia with a likely monogenic cause v1.6 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Thrombophilia with a likely monogenic cause v1.6 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.; to: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited bleeding disorders v1.158 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP; Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Bleeding and platelet disorders v1.21 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' - only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause v1.5 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI was removed from gene: ADAMTS13.
Thrombophilia with a likely monogenic cause v1.5 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Thrombophilia with a likely monogenic cause v1.5 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Hereditary Erythrocytosis v1.35 EGLN3 Arina Puzriakova Phenotypes for gene: EGLN3 were changed from erythrocytosis to Familial erythrocytosis
Hereditary Erythrocytosis v1.34 SH2B3 Arina Puzriakova Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.33 SH2B3 Arina Puzriakova Publications for gene: SH2B3 were set to
Hereditary Erythrocytosis v1.32 JAK2 Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.31 BPGM Arina Puzriakova Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800
Hereditary Erythrocytosis v1.30 VHL Arina Puzriakova Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400
Hereditary Erythrocytosis v1.29 HBB Arina Puzriakova Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from Erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.26 EPOR Arina Puzriakova Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907
Hereditary Erythrocytosis v1.24 EPAS1 Arina Puzriakova Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820
Combined factor V and VIII deficiency v1.6 MCFD2 Arina Puzriakova Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625; 227300 Combined factor V and VIII deficiency; 613625 Factor V and factor VIII, combined deficiency of to Factor V and factor VIII, combined deficiency of, OMIM:613625
Combined factor V and VIII deficiency v1.5 LMAN1 Arina Puzriakova Phenotypes for gene: LMAN1 were changed from 227300 Combined factor V and VIII deficiency; Combined factor V and VIII deficiency, 227300 to Combined factor V and VIII deficiency, OMIM:227300
Endocrine neoplasia v1.22 PTEN Ivone Leong Tag Q2_21_rating tag was added to gene: PTEN.
Tag Q2_21_NHS_review tag was added to gene: PTEN.
Endocrine neoplasia v1.22 MLH1 Ivone Leong Tag Q2_21_rating tag was added to gene: MLH1.
Tag Q2_21_NHS_review tag was added to gene: MLH1.
Endocrine neoplasia v1.22 MSH2 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH2.
Tag Q2_21_NHS_review tag was added to gene: MSH2.
Endocrine neoplasia v1.22 MSH6 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH6.
Tag Q2_21_NHS_review tag was added to gene: MSH6.
Endocrine neoplasia v1.22 PMS2 Ivone Leong Tag Q2_21_rating tag was added to gene: PMS2.
Tag Q2_21_NHS_review tag was added to gene: PMS2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 NF1 Ivone Leong Tag Q2_21_rating tag was added to gene: NF1.
Tag Q2_21_NHS_review tag was added to gene: NF1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Tag Q2_21_rating tag was added to gene: EPAS1.
Tag Q2_21_NHS_review tag was added to gene: EPAS1.
Hypogonadotropic hypogonadism (GMS) v1.15 CCDC141 Ivone Leong Tag Q2_21_expert_review tag was added to gene: CCDC141.
Hypogonadotropic hypogonadism (GMS) v1.15 CCDC141 Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v1.15 CCDC141 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141.

PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected.

PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH.

PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration.

After discussing with the Genomics England Clinical Team, it was decided that this gene should have an Amber rating as variants. Helen Brittain (Genomics England):
"...variants in this gene may be seen as a risk allele (either with other known contributory genetic factors, or unexplained variable penetrance)."
Hypogonadotropic hypogonadism (GMS) v1.15 CCDC141 Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v1.14 CCDC141 Ivone Leong Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to Anosmic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism, MONDO:0015770
Hypogonadotropic hypogonadism (GMS) v1.13 CCDC141 Ivone Leong Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Tag Q2_21_rating tag was added to gene: FLNA.
Tag Q2_21_NHS_review tag was added to gene: FLNA.
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Classified gene: FLNA as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.12 FLNA Ivone Leong Gene: flna has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.11 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
Intestinal failure or congenital diarrhoea v1.10 FLNA Ivone Leong Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Tag Q2_21_rating tag was added to gene: CLMP.
Tag Q2_21_NHS_review tag was added to gene: CLMP.
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Classified gene: CLMP as Amber List (moderate evidence)
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure or congenital diarrhoea v1.9 CLMP Ivone Leong Gene: clmp has been classified as Amber List (Moderate Evidence).
Intestinal failure or congenital diarrhoea v1.8 CLMP Ivone Leong Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237
Intestinal failure or congenital diarrhoea v1.7 CLMP Ivone Leong Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750
Intestinal failure or congenital diarrhoea v1.6 CLMP Ivone Leong Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Hypogonadotropic hypogonadism (GMS) v1.12 FEZF1 Ivone Leong Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism type 22 (OMIM 616030) to Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
Vascular skin disorders v1.47 PTEN Ivone Leong Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350; capillary venous malformations to Cowden syndrome 1, OMIM:158350; capillary venous malformations
Vascular skin disorders v1.46 ATR Ivone Leong Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564
Vascular skin disorders v1.45 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy to STING-associated vasculopathy, infantile-onset, OMIM:615934
Vascular skin disorders v1.44 TMEM173 Ivone Leong Publications for gene: TMEM173 were set to
Vascular skin disorders v1.43 TEK Ivone Leong Phenotypes for gene: TEK were changed from Venous malformations to Venous malformations, multiple cutaneous and mucosal, OMIM:600195
Vascular skin disorders v1.42 TEK Ivone Leong Publications for gene: TEK were set to
Vascular skin disorders v1.41 SOX18 Ivone Leong Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
Vascular skin disorders v1.40 SOX18 Ivone Leong Publications for gene: SOX18 were set to
Vascular skin disorders v1.39 SMAD4 Ivone Leong Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Vascular skin disorders v1.38 SMAD4 Ivone Leong Publications for gene: SMAD4 were set to
Vascular skin disorders v1.37 SCN9A Ivone Leong Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020
Vascular skin disorders v1.36 SCN9A Ivone Leong Publications for gene: SCN9A were set to
Vascular skin disorders v1.35 RASA1 Ivone Leong Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation syndrome to Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354
Vascular skin disorders v1.34 RASA1 Ivone Leong Publications for gene: RASA1 were set to
Vascular skin disorders v1.33 PIK3R2 Ivone Leong Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387 to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387
Vascular skin disorders v1.32 PIK3R2 Ivone Leong Publications for gene: PIK3R2 were set to
Vascular skin disorders v1.31 PIK3CA Ivone Leong Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformations to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291
Vascular skin disorders v1.30 PIK3CA Ivone Leong Publications for gene: PIK3CA were set to
Vascular skin disorders v1.29 KRIT1 Ivone Leong Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
Vascular skin disorders v1.28 KRIT1 Ivone Leong Publications for gene: KRIT1 were set to
Vascular skin disorders v1.27 GLMN Ivone Leong Phenotypes for gene: GLMN were changed from Glomulovenous malformations to Glomulovenous malformations, OMIM:138000
Vascular skin disorders v1.26 GLMN Ivone Leong Publications for gene: GLMN were set to
Vascular skin disorders v1.25 FOXC2 Ivone Leong Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400
Vascular skin disorders v1.24 FOXC2 Ivone Leong Publications for gene: FOXC2 were set to
Vascular skin disorders v1.23 FLT4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile haemangioma;Milroy disease
Vascular skin disorders v1.23 FLT4 Ivone Leong Phenotypes for gene: FLT4 were changed from Infantile haemangioma; Milroy disease to Hemangioma, capillary infantile, somatic, OMIM:602089
Vascular skin disorders v1.22 FLT4 Ivone Leong Publications for gene: FLT4 were set to
Vascular skin disorders v1.21 FECH Ivone Leong Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000
Vascular skin disorders v1.20 F12 Ivone Leong Phenotypes for gene: F12 were changed from Hereditary angioedema to Angioedema, hereditary, type III, OMIM:610618
Vascular skin disorders v1.19 F12 Ivone Leong Publications for gene: F12 were set to
Vascular skin disorders v1.18 EPHB4 Ivone Leong Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196 to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196
Vascular skin disorders v1.17 EPHB4 Ivone Leong Publications for gene: EPHB4 were set to
Vascular skin disorders v1.16 ENG Ivone Leong Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Vascular skin disorders v1.15 ENG Ivone Leong Publications for gene: ENG were set to
Vascular skin disorders v1.14 CCBE1 Ivone Leong Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Vascular skin disorders v1.13 CCBE1 Ivone Leong Publications for gene: CCBE1 were set to
Vascular skin disorders v1.12 ATM Ivone Leong Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900
Vascular skin disorders v1.11 ATM Ivone Leong Publications for gene: ATM were set to
Vascular skin disorders v1.10 ALAS2 Ivone Leong Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Vascular skin disorders v1.9 ALAS2 Ivone Leong Publications for gene: ALAS2 were set to
Vascular skin disorders v1.8 ADAMTS13 Ivone Leong Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Vascular skin disorders v1.7 ADAMTS13 Ivone Leong Publications for gene: ADAMTS13 were set to
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hereditary haemorrhagic telengiectasia
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Vascular skin disorders v1.5 ACVRL1 Ivone Leong Publications for gene: ACVRL1 were set to
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndrome; presynaptic CMS
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323
Congenital myaesthenic syndrome v2.35 SYT2 Ivone Leong Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Congenital myaesthenic syndrome v2.34 SYT2 Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528
Congenital myaesthenic syndrome v2.33 SLC5A7 Ivone Leong Phenotypes for gene: SLC5A7 were changed from Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Congenital myaesthenic syndrome v2.32 SLC25A1 Ivone Leong Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic; 618197 to Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
Congenital myaesthenic syndrome v2.31 SLC18A3 Ivone Leong Phenotypes for gene: SLC18A3 were changed from Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Congenital myaesthenic syndrome v2.30 SCN4A Ivone Leong Phenotypes for gene: SCN4A were changed from Myasthenic syndrome, congenital, 16, 614198; Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes to Myasthenic syndrome, congenital, 16, OMIM:614198
Congenital myaesthenic syndrome v2.29 RAPSN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset
Congenital myaesthenic syndrome v2.29 RAPSN Ivone Leong Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Congenital myaesthenic syndrome v2.28 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; myasthenic syndrome; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Congenital myaesthenic syndrome v2.26 LRP4 Ivone Leong Phenotypes for gene: LRP4 were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 17, 616304 to ?Myasthenic syndrome, congenital, 17, OMIM:616304
Congenital myaesthenic syndrome v2.25 GMPPB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome;muscular dystrophy-dystroglycanopathy;congenital muscular dystrophy with mental retardation;GMPPB-CMS;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome;MDDGC14 with features of CMS
Congenital myaesthenic syndrome v2.25 GMPPB Ivone Leong Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS to Congenital Myasthenic Syndrome, MONDO:0018940
Pulmonary arterial hypertension v2.9 AQP1 Nicholas Morrell reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;tubular aggregates
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Phenotypes for gene: GFPT1 were changed from Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;tubular aggregates;congenital disorder of glycosylation type Ij (CDG-IJ)
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034
Congenital myaesthenic syndrome v2.20 COL13A1 Ivone Leong Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720
Congenital myaesthenic syndrome v2.19 CHRNG Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenia gravis, neonatal transient;Neonatal congenital myasthenia;escobar syndrome;fetal akinesia deformation sequence syndrome/FADS;multiple pterygium syndrome/MPS
Congenital myaesthenic syndrome v2.19 CHRNG Ivone Leong Phenotypes for gene: CHRNG were changed from Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS to transient neonatal myasthenia gravis, MONDO:0018326
Congenital myaesthenic syndrome v2.18 CHRNE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Reduced channel conductance syndrome
Congenital myaesthenic syndrome v2.18 CHRNE Ivone Leong Phenotypes for gene: CHRNE were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323; Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Myasthenic syndrome, slow-channel congenital, 601462;Congenital Myasthenic Syndrome, Dominant/Recessive
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Congenital Myasthenic Syndrome, Dominant/Recessive to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314; Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Added comment: Comment on publications: In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; 8651643; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 1A, slow-channel, 601462;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Phenotypes for gene: CHRNA1 were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome to Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462; Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Added comment: Comment on publications: PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Publications for gene: CHRNA1 were set to 7619526; 15034283; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.12 CHAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EA
Congenital myaesthenic syndrome v2.12 CHAT Ivone Leong Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA to Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Phenotypes for gene: ALG2 were changed from Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Congenital myaesthenic syndrome v2.10 ALG14 Ivone Leong Phenotypes for gene: ALG14 were changed from Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
Congenital myaesthenic syndrome v2.9 AGRN Ivone Leong Phenotypes for gene: AGRN were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Cystic kidney disease v2.23 FLCN Daniel Gale gene: FLCN was added
gene: FLCN was added to Cystic kidney disease. Sources: Literature,Expert Review
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to PMID: 19785621; 31266032
Phenotypes for gene: FLCN were set to renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma
Penetrance for gene: FLCN were set to Incomplete
Review for gene: FLCN was set to GREEN
Added comment: Birt Hogg Dube syndrome (caused by variants in FLCN) is frequently associated with multiple renal cysts, without renal enlargement or progressive CKD. Previous published data indicate simple renal cysts present in 31-45% (PMID: 31266032;19785621) of patients with BHD and audit of 20 patients I follow up revealed simple renal cysts in 11 (multiple in 9 of these individuals) i.e. similar to the literature. Therefore BHD should be considered in the differential diagnosis of multiple renal cysts (without renal enlargement).
Sources: Literature, Expert Review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots Deleted their review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus v2.11 EEF2 Eleanor Williams Tag Q2_21_rating tag was added to gene: EEF2.
Hydrocephalus v2.11 EEF2 Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence)
Hydrocephalus v2.11 EEF2 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.
Hydrocephalus v2.11 EEF2 Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.10 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephaly
Review for gene: EEF2 was set to GREEN
Added comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly)
Sources: Literature
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported. Added to panel at recommendation of Genomics England clinician.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.8 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.75 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype.
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.52 COL6A3 Ivone Leong Classified gene: COL6A3 as Amber List (moderate evidence)
Structural eye disease v1.52 COL6A3 Ivone Leong Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.51 COL6A3 Ivone Leong gene: COL6A3 was added
gene: COL6A3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 33304895
Phenotypes for gene: COL6A3 were set to Peters anomaly
Review for gene: COL6A3 was set to AMBER
Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

Zornitza's review on the Cataracts panel (Version 2.66)
"Not sure if this is the right panel for Peters anomaly. Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. Sources: Literature
Zornitza Stark (Australian Genomics), 7 Jan 2021"

There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating.
Sources: Literature
Bilateral congenital or childhood onset cataracts v2.66 COL6A3 Ivone Leong Classified gene: COL6A3 as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.66 COL6A3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel.

This gene has been added to the Structural eye disease panel (panel ID: 509).
Bilateral congenital or childhood onset cataracts v2.66 COL6A3 Ivone Leong Gene: col6a3 has been classified as Red List (Low Evidence).
Differences in sex development v2.45 FGFR2 Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGFR2.
Differences in sex development v2.45 FGFR2 Ivone Leong Classified gene: FGFR2 as Amber List (moderate evidence)
Differences in sex development v2.45 FGFR2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

After consulting with the Genomics England Clinical Team, it was decided that this gene should be rated Amber. Helen Brittain (Genomics England):
"In the fetal cases the potential DSD phentoype is very mild and eclipsed by the skeletal / craniosynostosis presentation."
Differences in sex development v2.45 FGFR2 Ivone Leong Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.50 CRYAA Ivone Leong Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129
Structural eye disease v1.49 CRYAA Ivone Leong Added comment: Comment on publications: New publication added by Zornitza Stark (Australian Genomics)
Structural eye disease v1.49 CRYAA Ivone Leong Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Leber hereditary optic neuropathy v1.9 DNAJC30 Ivone Leong Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy; LHON-like to Leber hereditary optic neuropathy, MONDO:0010788; LHON-like
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Classified gene: DNAJC30 as Amber List (moderate evidence)
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Gene: dnajc30 has been classified as Amber List (Moderate Evidence).
Leber hereditary optic neuropathy v1.7 DNAJC30 Ivone Leong Tag watchlist was removed from gene: DNAJC30.
Tag Q2_21_rating tag was added to gene: DNAJC30.
Tag Q2_21_NHS_review tag was added to gene: DNAJC30.
Differences in sex development v2.44 NR3C1 Ivone Leong Publications for gene: NR3C1 were set to 30158362; 31995340; 19933394; 7683692; 11932321; 31145715
Differences in sex development v2.43 NR3C1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715).

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Differences in sex development v2.43 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences in sex development v2.42 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences in sex development v2.41 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v2.40 NR3C1 Ivone Leong Publications for gene: NR3C1 were set to 30158362
Differences in sex development v2.39 NR3C1 Ivone Leong Classified gene: NR3C1 as Amber List (moderate evidence)
Differences in sex development v2.39 NR3C1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715).

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Differences in sex development v2.39 NR3C1 Ivone Leong Gene: nr3c1 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.38 NR3C1 Ivone Leong Tag Q2_21_rating tag was added to gene: NR3C1.
Differences in sex development v2.38 NR3C1 Ivone Leong Phenotypes for gene: NR3C1 were changed from Glucocorticoid resistance (MIM#615962) to Glucocorticoid resistance, OMIM:615962
Paediatric motor neuronopathies v1.62 VAPB Ivone Leong Phenotypes for gene: VAPB were changed from Spinal muscular atrophy, late-onset, Finkel type 182980; Amyotrophic lateral sclerosis 8 608627 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
Paediatric motor neuronopathies v1.61 SETX Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Paediatric motor neuronopathies v1.60 REEP1 Ivone Leong Phenotypes for gene: REEP1 were changed from ?Neuronopathy, distal hereditary motor, type VB 614751 to ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
Paediatric motor neuronopathies v1.59 HSPB8 Ivone Leong Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590
Paediatric motor neuronopathies v1.58 HSPB8 Ivone Leong Publications for gene: HSPB8 were set to 15122253
Paediatric motor neuronopathies v1.57 HSPB1 Ivone Leong Phenotypes for gene: HSPB1 were changed from to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
Paediatric motor neuronopathies v1.56 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081; neuronopathy, distal hereditary motor, MONDO:0000075
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.54 ATP7A Ivone Leong Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric motor neuronopathies v1.53 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease, OMIM:309400; Occipital horn syndrome, OMIM:304150; Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
Paediatric motor neuronopathies v1.52 ALS2 Ivone Leong Phenotypes for gene: ALS2 were changed from juvenile amyotrophic lateral sclerosis-2, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Spastic paralysis, infantile onset ascending, OMIM:607225
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, OMIM:607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A 607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile Spinal Muscular Atrophy, X-Linked;Spinal muscular atrophy, X-linked 2, infantile, 301830
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Phenotypes for gene: UBA1 were changed from Infantile Spinal Muscular Atrophy, X-Linked; Spinal muscular atrophy, X-linked 2, infantile, 301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Paediatric motor neuronopathies v1.49 UBA1 Ivone Leong Publications for gene: UBA1 were set to PMID: 23518311
Paediatric motor neuronopathies v1.48 TRPV4 Ivone Leong Phenotypes for gene: TRPV4 were changed from Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, OMIM:113500
Paediatric motor neuronopathies v1.47 SPG11 Ivone Leong Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile 602099 to Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Paediatric motor neuronopathies v1.46 SMN1 Ivone Leong Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150 to Spinal muscular atrophy 1, OMIM:253300; Spinal muscular atrophy 2, OMIM:253550; Spinal muscular atrophy 3, OMIM:253400; Spinal muscular atrophy 4, OMIM:271150
Paediatric motor neuronopathies v1.45 SLC52A3 Ivone Leong Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Paediatric motor neuronopathies v1.44 SLC52A2 Ivone Leong Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
Paediatric motor neuronopathies v1.43 IGHMBP2 Ivone Leong Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Paediatric motor neuronopathies v1.42 EXOSC3 Ivone Leong Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Paediatric motor neuronopathies v1.41 DYNC1H1 Ivone Leong Phenotypes for gene: DYNC1H1 were changed from Spinal muscular atrophy, lower extremity-predominant, AD, 158600 to Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Paediatric motor neuronopathies v1.40 CHCHD10 Ivone Leong Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.37 ASAH1 Ivone Leong Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 to Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Paediatric motor neuronopathies v1.36 AR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Paediatric motor neuronopathies v1.36 AR Ivone Leong Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Ehlers Danlos syndrome with a likely monogenic cause v2.57 PIEZO2 Ivone Leong Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, 248700; Connective tissue disorder to ?Marden-Walker syndrome, OMIM:248700; connective tissue disease, MONDO:0003900
Ehlers Danlos syndrome with a likely monogenic cause v2.56 NOTCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Connective Tissue Disorders;Aortic valve disease 1, 109730;Familial thoracic aortic aneurysm;Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndrome with a likely monogenic cause v2.56 NOTCH1 Ivone Leong Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV) to connective tissue disease, MONDO:0003900
Ehlers Danlos syndrome with a likely monogenic cause v2.55 MYLK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v2.55 MYLK Ivone Leong Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780
Ehlers Danlos syndrome with a likely monogenic cause v2.54 DCC Ivone Leong Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Ehlers Danlos syndrome with a likely monogenic cause v2.53 ACTA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis;moya moya syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.53 ACTA2 Ivone Leong Phenotypes for gene: ACTA2 were changed from Thoracic aortic aneurysm and dissection; Aortic aneurysm, familial thoracic 6; 611788; Moyamoya disease 5; 614042; Thoracic aneurysms congenital mydriasis; moya moya syndrome to Aortic aneurysm, familial thoracic 6, OMIM:611788
Ehlers Danlos syndrome with a likely monogenic cause v2.52 ABL1 Ivone Leong Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, 617602 to Congenital heart defects and skeletal malformations syndrome, OMIM:617602
Ehlers Danlos syndrome with a likely monogenic cause v2.51 ZNF469 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 1, 229200;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.51 ZNF469 Ivone Leong Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 1, OMIM:229200
Ehlers Danlos syndrome with a likely monogenic cause v2.50 TNXB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;Classical-like EDS;clEDS;Ehlers-Danlos syndrome, classic-like type
Ehlers Danlos syndrome with a likely monogenic cause v2.50 TNXB Ivone Leong Phenotypes for gene: TNXB were changed from Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; Classical-like EDS; clEDS; Ehlers-Danlos syndrome, classic-like type to Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
Ehlers Danlos syndrome with a likely monogenic cause v2.49 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome 2, 610168 to Loeys-Dietz syndrome 2, OMIM:610168
Ehlers Danlos syndrome with a likely monogenic cause v2.48 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192
Ehlers Danlos syndrome with a likely monogenic cause v2.47 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582
Ehlers Danlos syndrome with a likely monogenic cause v2.46 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816
Ehlers Danlos syndrome with a likely monogenic cause v2.45 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome 3, 613795 to Loeys-Dietz syndrome 3, OMIM:613795
Ehlers Danlos syndrome with a likely monogenic cause v2.44 SMAD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Loeys-Dietz syndrome;LDS3;arterial aneurysms and dissections
Ehlers Danlos syndrome with a likely monogenic cause v2.44 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome; LDS3; arterial aneurysms and dissections to Loeys-Dietz syndrome, MONDO:0018954
Ehlers Danlos syndrome with a likely monogenic cause v2.43 SLC39A13 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
Ehlers Danlos syndrome with a likely monogenic cause v2.43 SLC39A13 Ivone Leong Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
Ehlers Danlos syndrome with a likely monogenic cause v2.42 SKI Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
Ehlers Danlos syndrome with a likely monogenic cause v2.41 ROBO3 Ivone Leong Phenotypes for gene: ROBO3 were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Ehlers Danlos syndrome with a likely monogenic cause v2.40 RIN2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.40 RIN2 Ivone Leong Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Ehlers Danlos syndrome with a likely monogenic cause v2.39 PYCR1 Ivone Leong Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Ehlers Danlos syndrome with a likely monogenic cause v2.38 PRDM5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 2, 614170;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.38 PRDM5 Ivone Leong Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 2, OMIM:614170
Ehlers Danlos syndrome with a likely monogenic cause v2.37 PLOD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.37 PLOD1 Ivone Leong Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Ehlers Danlos syndrome with a likely monogenic cause v2.36 LTBP4 Ivone Leong Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177
Ehlers Danlos syndrome with a likely monogenic cause v2.35 LOX Ivone Leong Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Ehlers Danlos syndrome with a likely monogenic cause v2.34 GORAB Ivone Leong Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 to Geroderma osteodysplasticum, OMIM:231070
Ehlers Danlos syndrome with a likely monogenic cause v2.33 FKBP14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndrome with a likely monogenic cause v2.33 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Ehlers Danlos syndrome with a likely monogenic cause v2.32 FBN2 Ivone Leong Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050
Ehlers Danlos syndrome with a likely monogenic cause v2.31 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
Ehlers Danlos syndrome with a likely monogenic cause v2.30 FBLN5 Ivone Leong Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal dominant 2, 614434; Cutis laxa, autosomal recessive, type IA, 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Ehlers Danlos syndrome with a likely monogenic cause v2.29 ELN Ivone Leong Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700
Ehlers Danlos syndrome with a likely monogenic cause v2.28 EFEMP2 Ivone Leong Phenotypes for gene: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Ehlers Danlos syndrome with a likely monogenic cause v2.27 DSE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ehlers Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type;DSE-deficient EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.27 DSE Ivone Leong Phenotypes for gene: DSE were changed from ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Ehlers Danlos syndrome with a likely monogenic cause v2.26 COL6A3 Ivone Leong Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.25 COL6A2 Ivone Leong Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.24 COL6A1 Ivone Leong Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndrome with a likely monogenic cause v2.23 COL5A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndrome with a likely monogenic cause v2.23 COL5A2 Ivone Leong Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
Ehlers Danlos syndrome with a likely monogenic cause v2.22 COL5A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndrome with a likely monogenic cause v2.22 COL5A1 Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
Ehlers Danlos syndrome with a likely monogenic cause v2.21 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.21 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Ehlers Danlos syndrome with a likely monogenic cause v2.20 COL1A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
Ehlers Danlos syndrome with a likely monogenic cause v2.20 COL1A2 Ivone Leong Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
Ehlers Danlos syndrome with a likely monogenic cause v2.19 COL1A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
Ehlers Danlos syndrome with a likely monogenic cause v2.19 COL1A1 Ivone Leong Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Ehlers Danlos syndrome with a likely monogenic cause v2.18 COL12A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myopathic EDS;mEDS;EDS/Myopathy overlap syndrome;Ehlers-Danlos syndrome, Myopathic type
Ehlers Danlos syndrome with a likely monogenic cause v2.18 COL12A1 Ivone Leong Phenotypes for gene: COL12A1 were changed from Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type to Bethlem myopathy 2, OMIM:616471
Ehlers Danlos syndrome with a likely monogenic cause v2.17 CHST14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.17 CHST14 Ivone Leong Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
Ehlers Danlos syndrome with a likely monogenic cause v2.16 CBS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
Ehlers Danlos syndrome with a likely monogenic cause v2.16 CBS Ivone Leong Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Ehlers Danlos syndrome with a likely monogenic cause v2.15 C1S Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 2, 617174;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII
Ehlers Danlos syndrome with a likely monogenic cause v2.15 C1S Ivone Leong Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome periodontal type 2, 617174; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII to Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174
Ehlers Danlos syndrome with a likely monogenic cause v2.14 C1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 1, 130080;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII;Ehlers-Danlos Syndrome periodontitis type;EDSVIII;EDSPD1
Ehlers Danlos syndrome with a likely monogenic cause v2.14 C1R Ivone Leong Phenotypes for gene: C1R were changed from Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1 to Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
Ehlers Danlos syndrome with a likely monogenic cause v2.13 BGN Ivone Leong Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989
Ehlers Danlos syndrome with a likely monogenic cause v2.12 B4GALT7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
Ehlers Danlos syndrome with a likely monogenic cause v2.12 B4GALT7 Ivone Leong Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
Ehlers Danlos syndrome with a likely monogenic cause v2.11 B3GALT6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause v2.11 B3GALT6 Ivone Leong Phenotypes for gene: B3GALT6 were changed from Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS; spEDS-B3GALT6; Progeroid EDS; Spondylodysplastic EDS due to B3GALT6-deficiency; EDS progeroid type 2; EDS B3GALT6 to Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640
Ehlers Danlos syndrome with a likely monogenic cause v2.10 ATP7A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxa
Ehlers Danlos syndrome with a likely monogenic cause v2.10 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa to Occipital horn syndrome, OMIM:304150
Ehlers Danlos syndrome with a likely monogenic cause v2.9 ATP6V1A Ivone Leong Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
Ehlers Danlos syndrome with a likely monogenic cause v2.8 ATP6V0A2 Ivone Leong Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 to Cutis laxa, autosomal recessive, type IIA, OMIM:219200; Wrinkly skin syndrome, OMIM:278250
Ehlers Danlos syndrome with a likely monogenic cause v2.7 ALDH18A1 Ivone Leong Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 to Cutis laxa, autosomal recessive, type IIIA, OMIM:219150; Cutis laxa, autosomal dominant 3, OMIM:616603
Ehlers Danlos syndrome with a likely monogenic cause v2.6 AEBP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome type;EDS type;Part of the EDS spectrum
Ehlers Danlos syndrome with a likely monogenic cause v2.6 AEBP1 Ivone Leong Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome type; EDS type; Part of the EDS spectrum to Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000
Ehlers Danlos syndrome with a likely monogenic cause v2.5 ADAMTS2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7C
Ehlers Danlos syndrome with a likely monogenic cause v2.5 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS; EDSVIIC; EDS7C to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh edited their review of gene: CLCN6: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.; Changed rating: GREEN
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLCN6.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Neuronal ceroid lipofuscinosis v1.22 CLCN6 Sarah Leigh Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Added comment: Comment on phenotypes: There is no Mondo term for this phenotype at present
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Neuronal ceroid lipofuscinosis v1.20 CLCN6 Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
Neuronal ceroid lipofuscinosis v1.19 GRN Sarah Leigh Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
Neuronal ceroid lipofuscinosis v1.18 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Neuronal ceroid lipofuscinosis v1.17 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Neuronal ceroid lipofuscinosis v1.16 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Neuronal ceroid lipofuscinosis v1.15 KCTD7 Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
Neuronal ceroid lipofuscinosis v1.14 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Neuronal ceroid lipofuscinosis v1.13 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Neuronal ceroid lipofuscinosis v1.12 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Neuronal ceroid lipofuscinosis v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.68 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.10 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.9 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Ocular coloboma v1.43 FZD5 Ivone Leong Classified gene: FZD5 as Green List (high evidence)
Ocular coloboma v1.43 FZD5 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM.

This gene is Amber on the Structural eye disease panel (Version 1.48) with the following review and a recommendation for this gene to be promoted to Green:

"Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29

RH 1. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu et al Hum Mol Genet. 2016 Apr 1; 25(7): 13821391. Rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. UNFORNATELY, THERE ARE NO OTHER REPORTS, SO IT FALLS ONE GOOD MUTATION SHORT PF BEING GREEN. WOULD PROBABLY BE A GOOD AMBER OPTION, BUT I DON'T GET THAT OPTION IN THE RATING COLUMN...
Created: 19 Jun 2019, 3:32 p.m."

There is enough evidence for this gene to be Green.
Ocular coloboma v1.43 FZD5 Ivone Leong Gene: fzd5 has been classified as Green List (High Evidence).
Neuronal ceroid lipofuscinosis v1.8 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Neuronal ceroid lipofuscinosis v1.7 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Neuronal ceroid lipofuscinosis v1.6 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 to Kufor-Rakeb syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Bilateral congenital or childhood onset cataracts v2.65 NSUN2 Ivone Leong Classified gene: NSUN2 as Red List (low evidence)
Bilateral congenital or childhood onset cataracts v2.65 NSUN2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
Bilateral congenital or childhood onset cataracts v2.65 NSUN2 Ivone Leong Gene: nsun2 has been classified as Red List (Low Evidence).
Bilateral congenital or childhood onset cataracts v2.64 NSUN2 Ivone Leong Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts
Neuronal ceroid lipofuscinosis v1.5 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Differences in sex development v2.37 MYRF Ivone Leong Classified gene: MYRF as Amber List (moderate evidence)
Differences in sex development v2.37 MYRF Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be promoted to Green at the next review.
Differences in sex development v2.37 MYRF Ivone Leong Gene: myrf has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.36 MYRF Ivone Leong Tag Q2_21_rating tag was added to gene: MYRF.
Differences in sex development v2.36 MYRF Ivone Leong Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia to Cardiac-urogenital syndrome, OMIM:618280; gonadal hypoplasia; Mullerian duct hypoplasia
Differences in sex development v2.35 ESR2 Ivone Leong Classified gene: ESR2 as Amber List (moderate evidence)
Differences in sex development v2.35 ESR2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Differences in sex development v2.35 ESR2 Ivone Leong Gene: esr2 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.34 ESR2 Ivone Leong Tag watchlist tag was added to gene: ESR2.
Differences in sex development v2.34 ESR2 Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187 to 46,XY disorder of sex development, MONDO:0020040; ?Ovarian dysgenesis 8, OMIM:618187
Differences in sex development v2.33 ESR2 Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187 to 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Deleted their comment
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh changed review comment from: Comment on phenotypes: There is no formal gene / disease association for PDP2.; to: Comment on phenotypes: There is no formal gene / disease association for PDP2, but pyruvate dehydrogenase deficiency MONDO:0019169 seemed a good generic phenotype for this gene.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Added comment: Comment on phenotypes: There is no formal gene / disease association for PDP2.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169
Pyruvate dehydrogenase (PDH) deficiency v1.28 TPK1 Sarah Leigh Phenotypes for gene: TPK1 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458; childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761
Pyruvate dehydrogenase (PDH) deficiency v1.27 SLC25A26 Sarah Leigh Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775
Pyruvate dehydrogenase (PDH) deficiency v1.26 SLC25A19 Sarah Leigh Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
Pyruvate dehydrogenase (PDH) deficiency v1.25 SLC19A3 Sarah Leigh Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483; biotin-responsive basal ganglia disease MONDO:0011841
Pyruvate dehydrogenase (PDH) deficiency v1.24 SLC19A2 Sarah Leigh Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Pyruvate dehydrogenase (PDH) deficiency v1.23 PDP1 Sarah Leigh Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
Pyruvate dehydrogenase (PDH) deficiency v1.22 PDHX Sarah Leigh Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503
Pyruvate dehydrogenase (PDH) deficiency v1.21 PDHB Sarah Leigh Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
Pyruvate dehydrogenase (PDH) deficiency v1.20 PDHA1 Sarah Leigh Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
Pyruvate dehydrogenase (PDH) deficiency v1.19 NFU1 Sarah Leigh Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582
Pyruvate dehydrogenase (PDH) deficiency v1.18 LONP1 Sarah Leigh Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879
Pneumothorax - familial v2.37 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 4, OMIM:614816
Pneumothorax - familial v2.36 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pyruvate dehydrogenase (PDH) deficiency v1.17 LIPT2 Sarah Leigh Phenotypes for gene: LIPT2 were changed from ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668; encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
Pneumothorax - familial v2.35 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.34 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.33 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax - familial v2.32 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome,MONDO:0018954
Pneumothorax - familial v2.31 TSC2 Ivone Leong Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254 to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pyruvate dehydrogenase (PDH) deficiency v1.16 LIPT1 Sarah Leigh Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576
Pneumothorax - familial v2.30 TSC1 Ivone Leong Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100
Pyruvate dehydrogenase (PDH) deficiency v1.15 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to
Pneumothorax - familial v2.29 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168 to Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.28 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192 to Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.27 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582
Pyruvate dehydrogenase (PDH) deficiency v1.14 ISCA2 Sarah Leigh Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
Pneumothorax - familial v2.26 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816 to Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816
Pyruvate dehydrogenase (PDH) deficiency v1.13 ISCA1 Sarah Leigh Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
Pyruvate dehydrogenase (PDH) deficiency v1.12 ISCA1 Sarah Leigh Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
Pneumothorax - familial v2.25 SERPINA1 Ivone Leong Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Emphysema/cirrhosis due to AAT deficiency, 613490 to Emphysema due to AAT deficiency, OMIM:613490; Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490
Pyruvate dehydrogenase (PDH) deficiency v1.11 IBA57 Sarah Leigh Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132
Pyruvate dehydrogenase (PDH) deficiency v1.10 HIBCH Sarah Leigh Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Pyruvate dehydrogenase (PDH) deficiency v1.9 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859; spasticity-ataxia-gait anomalies syndrome MONDO:0014803; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860; sideroblastic anemia 3 MONDO:0014804
Pyruvate dehydrogenase (PDH) deficiency v1.8 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Pyruvate dehydrogenase (PDH) deficiency v1.7 ECHS1 Sarah Leigh Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563
Pyruvate dehydrogenase (PDH) deficiency v1.6 DLD Sarah Leigh Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529
Pyruvate dehydrogenase (PDH) deficiency v1.5 DLAT Sarah Leigh Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 to PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348; pyruvate dehydrogenase E2 deficiency MONDO:0009502
Pyruvate dehydrogenase (PDH) deficiency v1.4 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299; multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675
Non-acute porphyrias v1.21 GATA1 Sarah Leigh Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367; thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Pneumothorax - familial v2.24 FLCN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube Syndrome
Pneumothorax - familial v2.24 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax - familial v2.23 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
Non-acute porphyrias v1.20 UROS Sarah Leigh Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Non-acute porphyrias v1.19 UROS Sarah Leigh Publications for gene: UROS were set to 27604308
Pneumothorax - familial v2.21 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
Non-acute porphyrias v1.18 UROD Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
Surfactant deficiency v1.9 SFTPA2 Ivone Leong Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500
Surfactant deficiency v1.8 SFTPC Ivone Leong Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
Surfactant deficiency v1.7 SFTPB Ivone Leong Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120
Surfactant deficiency v1.6 NKX2-1 Ivone Leong Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Surfactant deficiency v1.5 ABCA3 Ivone Leong Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
Non-acute porphyrias v1.17 UROD Sarah Leigh Publications for gene: UROD were set to 27604308
Skeletal muscle channelopathy v1.21 SCN4A Eleanor Williams commented on gene: SCN4A
Non-acute porphyrias v1.16 PPOX Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
Severe early-onset obesity v2.37 TUB Ivone Leong Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v2.36 SH2B1 Ivone Leong Phenotypes for gene: SH2B1 were changed from obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency to obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Severe early-onset obesity v2.35 INPP5E Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300
Severe early-onset obesity v2.35 INPP5E Ivone Leong Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v2.34 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v2.33 VPS13B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhood
Severe early-onset obesity v2.33 VPS13B Ivone Leong Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, 216550; Cohen syndrome; Truncal obesity developing in mid-childhood to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v2.32 TTC8 Ivone Leong Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, 615985; Bardet-Biedl syndrome 8 to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v2.31 SIM1 Ivone Leong Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
Non-acute porphyrias v1.15 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308
Non-acute porphyrias v1.14 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294
Severe early-onset obesity v2.30 SIM1 Ivone Leong Added comment: Comment on publications: 25805767;24814368 (functional evidence);24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet;24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type;23778139 - case-control study, variable penetrance of the variants in extended family studies;23778136;16924270
Severe early-onset obesity v2.30 SIM1 Ivone Leong Publications for gene: SIM1 were set to 25805767; 24814368 (functional evidence); 24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet; 24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type; 23778139 - case-control study, variable penetrance of the variants in extended family studies; 23778136; 16924270
Severe early-onset obesity v2.29 SDCCAG8 Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16; Bardet-Biedl syndrome 16, 615993 to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v2.28 POMC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
{Obesity, early-onset, susceptibility to}, 601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734;Congenital Obesity;{Obesity, early-onset, susceptibility to}, 601665
Severe early-onset obesity v2.28 POMC Ivone Leong Phenotypes for gene: POMC were changed from {Obesity, early-onset, susceptibility to}, 601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; Congenital Obesity; {Obesity, early-onset, susceptibility to}, 601665 to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Non-acute porphyrias v1.13 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Skeletal muscle channelopathy v1.21 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400
Skeletal muscle channelopathy v1.20 CACNA1S Eleanor Williams commented on gene: CACNA1S
Non-acute porphyrias v1.12 CPOX Sarah Leigh Deleted their comment
Non-acute porphyrias v1.12 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Added comment: Comment on phenotypes: Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
Non-acute porphyrias v1.10 CPOX Sarah Leigh Publications for gene: CPOX were set to 27604308
Non-acute porphyrias v1.9 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721
Non-acute porphyrias v1.8 ALAD Sarah Leigh Publications for gene: ALAD were set to 27604308
Non-acute porphyrias v1.7 ALAD Sarah Leigh Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.66 VPS33A Sarah Leigh Publications for gene: VPS33A were set to 28013294; 27547915
Lysosomal storage disorder v1.65 VPS33A Sarah Leigh Phenotypes for gene: VPS33A were changed from Mucopolysaccharidosis-plus syndrome (MIM#617303) to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Lysosomal storage disorder v1.64 CTSF Sarah Leigh Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Lysosomal storage disorder v1.63 CTSF Sarah Leigh edited their review of gene: CTSF: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.; Changed rating: GREEN
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Tag Q2_21_rating tag was added to gene: CTSF.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence)
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.62 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Skeletal muscle channelopathy v1.20 SLC2A1 Eleanor Williams Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Skeletal muscle channelopathy v1.19 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300; Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.18 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.17 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.16 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.15 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.14 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.13 PYGM Eleanor Williams Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: ATP13A2.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh edited their review of gene: ATP13A2: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene for Parkinson disease 9. At least five variants reported in at least five unrelated cases, together with supportive functional studies.; Changed rating: GREEN
Skeletal muscle channelopathy v1.12 KCNA1 Eleanor Williams Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120
Skeletal muscle channelopathy v1.11 CLCN1 Eleanor Williams Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700
Skeletal muscle channelopathy v1.10 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.60 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, MIM# 617225 to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Lysosomal storage disorder v1.59 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2 204500 to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Lysosomal storage disorder v1.58 SUMF1 Sarah Leigh Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency OMIM:272200; mucosulfatidosis MONDO:0010088
Lysosomal storage disorder v1.57 SMPD1 Sarah Leigh Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616 to Niemann-Pick disease, type A OMIM:257200; Niemann-Pick disease type A MONDO:0009756; Niemann-Pick disease, type B OMIM:607616; Niemann-Pick disease type B MONDO:0011871
Lysosomal storage disorder v1.56 SLC17A5 Sarah Leigh Phenotypes for gene: SLC17A5 were changed from Salla disease 604369; Sialic acid storage disorder, infantile 269920 to Salla disease OMIM:604369; Salla disease MONDO:0011449; Sialic acid storage disorder, infantile OMIM:269920; free sialic acid storage disease, infantile form MONDO:0010027
Lysosomal storage disorder v1.55 SGSH Sarah Leigh Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 to Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900; Sanfilippo syndrome type A MONDO:0009655
Lysosomal storage disorder v1.54 PSAP Sarah Leigh Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
Lysosomal storage disorder v1.53 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 256730 to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Lysosomal storage disorder v1.52 NPC2 Sarah Leigh Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 607625 to Niemann-pick disease, type C2 OMIM:607625; Niemann-Pick disease, type C2 MONDO:0011873
Lysosomal storage disorder v1.51 NPC1 Sarah Leigh Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757
Lysosomal storage disorder v1.50 NEU1 Sarah Leigh Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738
Lysosomal storage disorder v1.49 NAGLU Sarah Leigh Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
Lysosomal storage disorder v1.48 NAGA Sarah Leigh Phenotypes for gene: NAGA were changed from Schindler disease, type I 609241; Schindler disease, type III 609241 to Schindler disease, type I OMIM:609241; Schindler disease, type III OMIM:609241; alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221; Kanzaki disease OMIM:609242; alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222
Severe early-onset obesity v2.27 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v2.26 PCSK1 Ivone Leong Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Added comment: Comment on publications: 16702999 functional studies;27884935;29100083;24950379 GWAS found signals close to this gene associated with birth weight;26727462 association with physical activity score;26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference;15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Publications for gene: NTRK2 were set to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.24 NTRK2 Ivone Leong Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v2.23 MYT1L Ivone Leong Added comment: Comment on publications: 26240977 - patient with normal weight at 4.5 years of age;
25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”;25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN);24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity;21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.23 MYT1L Ivone Leong Publications for gene: MYT1L were set to 26240977 - patient with normal weight at 4.5 years of age; 25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”; 25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN); 24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity; 21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.22 MYT1L Ivone Leong Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, 616521; intellectual disability to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v2.21 MKS1 Ivone Leong Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, 615990; Bardet-Biedl syndrome 13 to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v2.20 MKKS Ivone Leong Phenotypes for gene: MKKS were changed from Obesity; Bardet-Biedl syndrome 6; Bardet-Biedl syndrome 6, 605231 to Obesity; Bardet-Biedl syndrome 6, OMIM:605231
Severe early-onset obesity v2.19 MC4R Ivone Leong Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Lysosomal storage disorder v1.47 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951 to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Severe early-onset obesity v2.18 LEPR Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency, 614963; Congenital Obesity to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v2.17 LEPR Ivone Leong Added comment: Comment on publications: 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders;
26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents;
25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island;
24611737 - uncertain heterozygous variant reported;24319006 - two homozygous cases reported (Pakistan);
23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.17 LEPR Ivone Leong Publications for gene: LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.16 LEP Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962; Congenital Obesity to Obesity, morbid, due to leptin deficiency, OMIM:614962
Severe early-onset obesity v2.15 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
Severe early-onset obesity v2.14 CEP19 Ivone Leong Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, 615703 to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v2.13 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Obesity; Bardet-Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9 to Obesity; Bardet-Biedl syndrome 9, OMIM:615986
Severe early-onset obesity v2.12 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, 615984; Bardet-Biedl syndrome 7 to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v2.11 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5 to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v2.10 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, 615982; Bardet-Biedl syndrome 4 to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v2.9 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2, 615981 to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v2.8 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12, 615989 to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v2.7 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 10, 615987 to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v2.6 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1, 209900 to Obesity; Bardet-Biedl syndrome 1, OMIM:209900
Severe early-onset obesity v2.5 ARL6 Ivone Leong Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3 to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Lysosomal storage disorder v1.46 MCOLN1 Sarah Leigh Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV 252650 to Mucolipidosis IV OMIM:252650; mucolipidosis type IV MONDO:0009653
Hypertrophic cardiomyopathy v2.18 FHOD3 Ivone Leong Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Lysosomal storage disorder v1.45 MANBA Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 to Mannosidosis, beta OMIM:248510; beta-mannosidosis MONDO:0009562
Hypertrophic cardiomyopathy v2.17 FHOD3 Ivone Leong Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Lysosomal storage disorder v1.44 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II OMIM:248500; alpha-mannosidosis MONDO:0009561
Lysosomal storage disorder v1.43 LIPA Sarah Leigh Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease 278000; Wolman disease 278000 to Cholesteryl ester storage disease OMIM:278000; Wolman disease OMIM:278000; lysosomal acid lipase deficiency MONDO:0010204
Lysosomal storage disorder v1.42 LAMP2 Sarah Leigh Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281
Lysosomal storage disorder v1.41 IDUA Sarah Leigh Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 to Mucopolysaccharidosis Ih OMIM:607014; Hurler syndrome MONDO:0011758; Mucopolysaccharidosis Is OMIM:607016; Scheie syndrome MONDO:0011760; Mucopolysaccharidosis Ih/s OMIM:607015; Hurler-Scheie syndromeMONDO:0011759
Lysosomal storage disorder v1.40 IDS Sarah Leigh Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II OMIM:309900; mucopolysaccharidosis type 2 MONDO:0010674
Lysosomal storage disorder v1.39 HYAL1 Sarah Leigh Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657
Lysosomal storage disorder v1.37 HEXB Sarah Leigh Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms 268800 to Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800; Sandhoff disease MONDO:0010006
Lysosomal storage disorder v1.36 HEXA Sarah Leigh Phenotypes for gene: HEXA were changed from Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800 to Tay-Sachs disease OMIM:272800; GM2-gangliosidosis, several forms OMIM:272800; Tay-Sachs disease MONDO:0010100
Lysosomal storage disorder v1.35 GUSB Sarah Leigh Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII OMIM:253220; mucopolysaccharidosis type 7 MONDO:0009662
Lysosomal storage disorder v1.34 GNPTG Sarah Leigh Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma 252605 to Mucolipidosis III gamma OMIM:252605; mucolipidosis type III gamma MONDO:0009652
Lysosomal storage disorder v1.33 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type III MONDO:0018931
Lysosomal storage disorder v1.32 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931
Lysosomal storage disorder v1.31 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta 252500 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650
Lysosomal storage disorder v1.30 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Sialuria 269921 (AD); Nonaka myopathy 605820 to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.29 GM2A Sarah Leigh Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Deleted their comment
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Added comment: Comment on phenotypes: Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
Lysosomal storage disorder v1.27 GLA Sarah Leigh Phenotypes for gene: GLA were changed from Fabry disease 301500 to Fabry disease OMIM:301500; Fabry disease MONDO:0010526
Lysosomal storage disorder v1.26 GBA Sarah Leigh Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266
Monogenic diabetes v2.41 ZMPSTE24 Ivone Leong Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
Monogenic diabetes v2.40 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410
Monogenic diabetes v2.39 ZBTB20 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primrose syndrome, 259050;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
Monogenic diabetes v2.39 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) to diabetes mellitus (disease), MONDO:0005015
Monogenic diabetes v2.38 WFS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
diabetes insipidus or optic atrophy;Wolfram-like syndrome, autosomal dominant, 614296;Deafness, autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};Deafness,autosomal dominant 6/14/38, 600965;Wolfram syndrome, 222300;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;?Cataract 41,116400
Monogenic diabetes v2.38 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 to Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
Monogenic diabetes v2.37 TRMT10A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies;young onset diabetes, short stature and microcephaly with intellectual disability;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic diabetes v2.37 TRMT10A Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
Monogenic diabetes v2.36 SLC29A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782
Monogenic diabetes v2.36 SLC29A3 Ivone Leong Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Monogenic diabetes v2.35 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710;recessive syndromic diabetes and autosomal dominant MODY
Monogenic diabetes v2.35 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY to Mitchell-Riley syndrome, OMIM:615710
Monogenic diabetes v2.34 PPP1R15B Ivone Leong Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
Monogenic diabetes v2.33 PPARG Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Lipodystrophy, familial partial, type 3, 604367;FPLD3;{Diabetes, type 2}, 125853;[Obesity, resistance to];Obesity, severe, 601665;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;Insulin resistance, severe, digenic, 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Lipodystrophy, familial partial, type 3 604367;Carotid intimal medial thickness 1, 609338
Monogenic diabetes v2.33 PPARG Ivone Leong Phenotypes for gene: PPARG were changed from Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; [Obesity, resistance to]; Obesity, severe, 601665; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Lipodystrophy, familial partial, type 3 604367; Carotid intimal medial thickness 1, 609338 to Lipodystrophy, familial partial, type 3, OMIM:604367; Insulin resistance, severe, digenic, OMIM:604367; Obesity, severe, OMIM:601665; {Diabetes, type 2}, OMIM:125853
Monogenic diabetes v2.32 PLIN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.32 PLIN1 Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877
Monogenic diabetes v2.31 PIK3R1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome
Monogenic diabetes v2.31 PIK3R1 Ivone Leong Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880
Lysosomal storage disorder v1.25 GALNS Sarah Leigh Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA OMIM:253000; mucopolysaccharidosis type 4A MONDO:0009659
Lysosomal storage disorder v1.24 GALC Sarah Leigh Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease OMIM:245200; Krabbe disease MONDO:0009499
Monogenic diabetes v2.30 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis 1;MODY4;Maturity-Onset Diabetes Of The Young;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4;Permanent neonatal diabetes;Maturity-onset diabetes of the young (MODY);MODY type IV;Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392
Monogenic diabetes v2.30 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392
Lysosomal storage disorder v1.23 GAA Sarah Leigh Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II OMIM:232300; glycogen storage disease II MONDO:0009290
Monogenic diabetes v2.29 PCBD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic diabetes v2.29 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070
Monogenic diabetes v2.28 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Lysosomal storage disorder v1.22 FUCA1 Sarah Leigh Phenotypes for gene: FUCA1 were changed from Fucosidosis 230000 to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254
Monogenic diabetes v2.27 PAX6 Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
Monogenic diabetes v2.27 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015
Monogenic diabetes v2.26 PAX6 Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
Monogenic diabetes v2.26 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015
Lysosomal storage disorder v1.21 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Monogenic diabetes v2.25 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Maturity-onset diabetes of the young 6, 606394;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6;{Diabetes mellitus, noninsulin-dependent}, 125853;Maturity-Onset Diabetes Of The Young;MODY6;Permanent neonatal diabetes and cerebellar agenesis;Maturity Onset Diabetes of the Young
Monogenic diabetes v2.25 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
Lysosomal storage disorder v1.20 CTSK Sarah Leigh Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800; pycnodysostosis MONDO:0009940
Lysosomal storage disorder v1.19 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 OMIM:610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Lysosomal storage disorder v1.18 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
Lysosomal storage disorder v1.17 CTSA Sarah Leigh Phenotypes for gene: CTSA were changed from Galactosialidosis 256540 to Galactosialidosis OMIM:256540; galactosialidosis MONDO:0009737
Lysosomal storage disorder v1.16 CTNS Sarah Leigh Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064
Monogenic diabetes v2.24 MT-TL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
MIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetes
Monogenic diabetes v2.24 MT-TL1 Ivone Leong Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785
Monogenic diabetes v2.23 LMNA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
FPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.23 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 2, OMIM:151660; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.22 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820; Maturity-onset diabetes of the young, type 13, OMIM:616329
Monogenic diabetes v2.21 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient Neonatal diabetes mellitus (Dominant);Transient Neonatal Diabetes, Dominant;Diabetes mellitus, transient neonatal, 3, 610582;Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive);Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;Maturity Onset Diabetes of the Young;{Diabetes mellitus, type 2, susceptibility to}, 125853;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Transient Neonatal, 3;Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal;Diabetes mellitus, trans;Diabetes Mellitus, Transient Neonatal, 3
Monogenic diabetes v2.21 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; {Diabetes mellitus, type 2, susceptibility to}, 125853; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820
Monogenic diabetes v2.20 INSR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Leprechaunism, 246200;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Rabson-Mendenhall syndrome, 262190;Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans;OMIM 610549;Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities;Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans;Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, 609968;DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Monogenic diabetes v2.20 INSR Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS to Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549; Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Leprechaunism, OMIM:246200; Rabson-Mendenhall syndrome, OMIM:262190
Intestinal failure or congenital diarrhoea v1.5 FLNA Miranda Durkie gene: FLNA was added
gene: FLNA was added to Intestinal failure. Sources: Literature
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 PMID: 23037936; PMID: 23873601; PMID: 33464596
Phenotypes for gene: FLNA were set to Congenital short bowel
Penetrance for gene: FLNA were set to unknown
Review for gene: FLNA was set to GREEN
Added comment: Congenital short bowel not included in other panels - overlap with intestinal failure presentation
PMID: 23037936 - affected males in 2 families
PMID: 33464596 - 1 affected male
Sources: Literature
Lysosomal storage disorder v1.15 ARSG Sarah Leigh edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; Changed rating: GREEN
Intestinal failure or congenital diarrhoea v1.5 CLMP Miranda Durkie gene: CLMP was added
gene: CLMP was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Phenotypes for gene: CLMP were set to Congenital short bowel
Penetrance for gene: CLMP were set to unknown
Review for gene: CLMP was set to GREEN
Added comment: Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation
PMID: 33384711 - 2 brothers with compound het LOF variants
PMID: 31061750 - 1 proband with homozygous LOF CLMP variants
PMID: 27720179 1 proband with compound het LOF variants
PMID: 27352967: 3 patients from 2 families
PMID: 22155368 - initial paper
Sources: Literature
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Tag Q2_21_rating tag was added to gene: ARSG.
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381; 33300174
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Classified gene: ARSG as Amber List (moderate evidence)
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Gene: arsg has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.13 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
Lysosomal storage disorder v1.12 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from Usher syndrome, type IV 618144 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141
Monogenic diabetes v2.19 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
MODY10;Maturity-onset diabetes of the young, type 10, 613370;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, insulin-dependent, 2, 125852;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10;Maturity Onset Diabetes of the Young;Permanent Neonatal diabetes mellitus;Hyperproinsulinemia, familial, with or without diabetes;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, type 1, 125852
Monogenic diabetes v2.19 INS Ivone Leong Phenotypes for gene: INS were changed from MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214
Monogenic diabetes v2.18 HNF4A Ivone Leong Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 to {Diabetes mellitus, noninsulin-dependent}, OMIM:125853; MODY, type I , OMIM:125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Monogenic diabetes v2.17 HNF1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;Renal Cysts and Diabetes Syndrome;Diabetes mellitus, noninsulin-dependent, 125853;Maturity-Onset Diabetes Of The Young;RCAD;renal malformation;{Renal cell carcinoma}, 144700;Renal cysts and diabetes syndrome, 137920;RENAL CYSTS AND DIABETES SYNDROME
Monogenic diabetes v2.17 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME to transient neonatal diabetes mellitus (disease), MONDO:0020525; Type 2 diabetes mellitus, OMIM:125853; maturity-onset diabetes of the young (disease), MONDO:0018911
Bilateral congenital or childhood onset cataracts v2.63 DYRK1A Sarah Leigh Publications for gene: DYRK1A were set to 28053047; 25944381
Structural eye disease v1.48 DYRK1A Sarah Leigh Publications for gene: DYRK1A were set to 19081073; 28135719
Skeletal muscle channelopathy v1.9 CACNA1A Eleanor Williams Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 to Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500
Skeletal muscle channelopathy v1.8 ATP2A1 Eleanor Williams Phenotypes for gene: ATP2A1 were changed from Brody myopathy, 601003 to Brody myopathy OMIM:601003
Autosomal recessive primary hypertrophic osteoarthropathy v1.9 ACVR1 Eleanor Williams Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, 135100 to Fibrodysplasia ossificans progressiva OMIM:135100
Autosomal recessive primary hypertrophic osteoarthropathy v1.8 SLCO2A1 Eleanor Williams Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441
Autosomal recessive primary hypertrophic osteoarthropathy v1.7 HPGD Eleanor Williams Phenotypes for gene: HPGD were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
Monogenic diabetes v2.16 GCK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:

Transient Neonatal Diabetes, Recessive;MODY2;Diabetes mellitus, permanent neonatal, 606176;Maturity-Onset Diabetes Of The Young;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Permanent neonatal diabetes;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2;Permanent Neonatal Diabetes Mellitus (recessive);Maturity-onset diabetes of the young (MODY);Permanent Neonatal Diabetes Mellitus;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, gestational, 125851;MODY, type II, 125851;Maturity Onset Diabetes of the Young;Neonatal diabetes;Fasting hyperglycaemia
Monogenic diabetes v2.16 GCK Ivone Leong Phenotypes for gene: GCK were changed from Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young; Neonatal diabetes; Fasting hyperglycaemia to Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; MODY, type II, OMIM:125851; Diabetes mellitus, permanent neonatal 1, OMIM:606176
Monogenic diabetes v2.15 HNF1A Ivone Leong Added comment: Comment on phenotypes: Phenotypes were previous:
Hepatic adenoma, somatic, 142330;Maturity-Onset Diabetes Of The Young;{Diabetes mellitus, insulin-dependent}, 222100;Renal cell carcinoma, 144700;MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520;Diabetes mellitus, insulin-dependent, 20, 612520;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3;MODY3;Maturity-onset diabetes of the young (MODY);{Diabetes mellitus, noninsulin-dependent, 2}, 125853;MODY, type III, 600496;Maturity Onset Diabetes of the Young
Monogenic diabetes v2.15 HNF1A Ivone Leong Phenotypes for gene: HNF1A were changed from Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496
Polycystic liver disease v1.23 TERT Ivone Leong Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) to {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989; {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989
Polycystic liver disease v1.22 TERC Ivone Leong Phenotypes for gene: TERC were changed from Dyskeratosiscongenita, autosomal dominant 1 (127550) to Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550
Polycystic liver disease v1.21 STN1 Ivone Leong Phenotypes for gene: STN1 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
Polycystic liver disease v1.20 SEC61B Ivone Leong Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts to Association with polycystic liver disease 1 with or without renal cysts; Polycystic liver disease 1, MONDO:0008265
Osteopetrosis v1.25 PLEKHM1 Eleanor Williams Phenotypes for gene: PLEKHM1 were changed from ?Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 618107 to ?Osteopetrosis, autosomal recessive 6 OMIM:611497; Osteopetrosis, autosomal dominant 3 OMIM:618107
Osteopetrosis v1.24 TYROBP Eleanor Williams Phenotypes for gene: TYROBP were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 221770 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770
Osteopetrosis v1.23 TNFSF11 Eleanor Williams Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 259710 to Osteopetrosis, autosomal recessive 2 OMIM:259710
Osteopetrosis v1.22 TNFRSF11A Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile 174810; {Paget disease of bone 2, early-onset} 602080; Osteopetrosis, autosomal recessive 7 612301 to Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301
Osteopetrosis v1.21 TGFB1 Eleanor Williams Phenotypes for gene: TGFB1 were changed from Camurati-Engelmann disease 131300 to Camurati-Engelmann disease OMIM:131300
Osteopetrosis v1.20 TCIRG1 Eleanor Williams Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1 259700 to Osteopetrosis, autosomal recessive 1 OMIM:259700
Osteopetrosis v1.19 SOST Eleanor Williams Phenotypes for gene: SOST were changed from Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100 to Sclerosteosis 1 OMIM:269500; Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860; Van Buchem disease OMIM:239100
Osteopetrosis v1.18 SNX10 Eleanor Williams Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 615085 to Osteopetrosis, autosomal recessive 8 OMIM:615085
Osteopetrosis v1.17 RASGRP2 Eleanor Williams Phenotypes for gene: RASGRP2 were changed from none to osteopetrosis (disease) MONDO:0017198
Osteopetrosis v1.16 RASGRP2 Eleanor Williams Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to none
Osteopetrosis v1.15 RASGRP2 Eleanor Williams Added comment: Comment on phenotypes: Removing phenotype "?Bleeding disorder, platelet-type, 18 615888" as does not appear to be associated with Osteopetrosis
Osteopetrosis v1.15 RASGRP2 Eleanor Williams Phenotypes for gene: RASGRP2 were changed from ?Bleeding disorder, platelet-type, 18 615888 to ?Bleeding disorder, platelet-type, 18 615888
Osteopetrosis v1.14 PTH1R Eleanor Williams Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400 to Chondrodysplasia, Blomstrand type OMIM:215045; Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400
Osteopetrosis v1.13 OSTM1 Eleanor Williams Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5 OMIM:259720
Osteopetrosis v1.12 LRP5 Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal OMIM:144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636
Osteopetrosis v1.11 LRP5 Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636
Osteopetrosis v1.10 LEMD3 Eleanor Williams Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis 166700; Buschke-Ollendorff syndrome 166700 to Osteopoikilosis with or without melorheostosis OMIM:166700; Buschke-Ollendorff syndrome OMIM:166700
Osteopetrosis v1.9 FERMT3 Eleanor Williams Phenotypes for gene: FERMT3 were changed from Leukocyte adhesion deficiency, type III 612840 to Leukocyte adhesion deficiency, type III OMIM:612840
Osteopetrosis v1.8 FAM20C Eleanor Williams Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome OMIM:259775
Osteopetrosis v1.7 CTSK Eleanor Williams Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800
Osteopetrosis v1.6 CLCN7 Eleanor Williams Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4 OMIM:611490; Osteopetrosis, autosomal dominant 2 OMIM:166600
Osteopetrosis v1.5 CA2 Eleanor Williams Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM:259730
Osteopetrosis v1.4 ANKH Eleanor Williams Phenotypes for gene: ANKH were changed from Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 to Chondrocalcinosis 2 OMIM:118600; Craniometaphyseal dysplasia OMIM:123000
Fetal anomalies v1.635 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 32909676; Phenotypes: limb contractures, ventriculomegaly, stillbirth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.69 T Arina Puzriakova Phenotypes for gene: T were changed from Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978 to Chordoma (disease), MONDO:0008978
Sarcoma susceptibility v1.68 WT1 Arina Puzriakova Phenotypes for gene: WT1 were changed from Wilms tumour 1, 194070 to Wilms tumour 1, OMIM:194070; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.67 TNFRSF11A Arina Puzriakova Phenotypes for gene: TNFRSF11A were changed from Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma to {Paget disease of bone 2, early-onset}, OMIM:602080; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.66 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor, somatic 606764; Familial GIST to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Sarcoma susceptibility v1.65 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Rhabdomyosarcoma 2, alveolar, 268220 to Rhabdomyosarcoma 2, alveolar, OMIM:268220
Sarcoma susceptibility v1.64 PAX3 Arina Puzriakova Phenotypes for gene: PAX3 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova changed review comment from: Comment on mode of inheritance: somatic mosaicism; to: Comment on mode of inheritance: One case with somatic mosaicism (PMID: 20805368)
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova Added comment: Comment on mode of inheritance: somatic mosaicism
Sarcoma susceptibility v1.63 KRAS Arina Puzriakova Mode of inheritance for gene: KRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Sarcoma susceptibility v1.62 KRAS Arina Puzriakova Publications for gene: KRAS were set to
Sarcoma susceptibility v1.61 KRAS Arina Puzriakova Phenotypes for gene: KRAS were changed from Nevus, Epidermal 162900 to Nevus, Epidermal, OMIM:162900; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.60 FOXO1 Arina Puzriakova Phenotypes for gene: FOXO1 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220
Sarcoma susceptibility v1.59 DICER1 Arina Puzriakova Publications for gene: DICER1 were set to 30989777
Sarcoma susceptibility v1.58 CREBBP Arina Puzriakova Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome 1, 180849 to Rubinstein-Taybi syndrome 1, OMIM:180849; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.57 WRN Arina Puzriakova Phenotypes for gene: WRN were changed from Werner syndrome 277700 to Werner syndrome, OMIM:277700; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.56 SMARCB1 Arina Puzriakova Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322
Sarcoma susceptibility v1.55 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517
Sarcoma susceptibility v1.54 SMARCA4 Arina Puzriakova Mode of inheritance for gene: SMARCA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.53 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from undifferentiated uterine sarcoma to Uterine corpus sarcoma, MONDO:0005210
Sarcoma susceptibility v1.52 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.51 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.50 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Sarcoma susceptibility v1.49 RB1 Arina Puzriakova Phenotypes for gene: RB1 were changed from Retinoblastoma, 180200 to Retinoblastoma, OMIM:180200; Osteosarcoma, somatic, OMIM:259500
Sarcoma susceptibility v1.48 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from Paraganglioma to Leiomyosarcoma, MONDO:0005058
Sarcoma susceptibility v1.47 PTEN Arina Puzriakova Mode of inheritance for gene: PTEN was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.46 PTEN Arina Puzriakova Publications for gene: PTEN were set to
Sarcoma susceptibility v1.45 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337
Sarcoma susceptibility v1.45 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 4, OMIM:619101; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.44 NBN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Aplastic anemia, OMIM:609135 and Leukemia, acute lymphoblastic, OMIM:613065
Sarcoma susceptibility v1.44 NBN Arina Puzriakova Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, OMIM:251260; Rhabdomyosarcoma (disease), MONDO:0005212
Congenital disorders of glycosylation v2.66 SLC35D1 Sarah Leigh Added comment: Comment on phenotypes: 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital disorders of glycosylation v2.66 SLC35D1 Sarah Leigh Phenotypes for gene: SLC35D1 were changed from 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia OMIM:269250; schneckenbecken dysplasia MONDO:0010013
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Tag Q2_21_MOI tag was added to gene: KIDINS220.
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: After consultation with the Genomics England clinical team changing the MOI rating to BOTH monoallelic and biallelic but leaving the amber rating with a recommendation for this gene to be discussed at the next GMS review with regards to the 2 biallelic cases and the partially supportive mouse model.
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarcoma susceptibility v1.43 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 3, OMIM:619097; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.42 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 2, OMIM:619096; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.41 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 1, OMIM:276300; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.40 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Sarcoma susceptibility v1.39 KIT Arina Puzriakova Mode of pathogenicity for gene: KIT 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
Sarcoma susceptibility v1.38 HRAS Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, OMIM:218040; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.37 FH Arina Puzriakova Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer 150800 to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyosarcoma, MONDO:0005058
Sarcoma susceptibility v1.36 ERCC2 Arina Puzriakova Mode of inheritance for gene: ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.35 ATM Arina Puzriakova Publications for gene: ATM were set to 27498913; 30567006
Sarcoma susceptibility v1.34 ATM Arina Puzriakova Publications for gene: ATM were set to 27498913
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 MR1 Boaz Palterer gene: MR1 was added
gene: MR1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MR1 were set to 32709702
Phenotypes for gene: MR1 were set to Warts, bacterial infections, MAIT cells deficiency
Penetrance for gene: MR1 were set to unknown
Review for gene: MR1 was set to RED
Added comment: Howson et al. describe a single patient with resistant warts and bacterial infections, with a homozygous MR1 variant (p.R9H) causing a selective MAIT cells deficiency.
Sources: Literature
Sarcoma susceptibility v1.33 APC Arina Puzriakova Publications for gene: APC were set to
Sarcoma susceptibility v1.32 ERCC2 Arina Puzriakova Phenotypes for gene: ERCC2 were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.31 CDKN1C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with IMAGE syndrome, OMIM:614732
Sarcoma susceptibility v1.31 CDKN1C Arina Puzriakova Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650 to Beckwith-Wiedemann syndrome, OMIM:130650; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.30 BUB1B Arina Puzriakova Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1, 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300; Rhabdomyosarcoma (disease), MONDO:0005212
Sarcoma susceptibility v1.29 BRCA2 Arina Puzriakova Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.28 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.27 BLM Arina Puzriakova Mode of inheritance for gene: BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
Sarcoma susceptibility v1.26 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom to Bloom syndrome, OMIM:210900; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.25 ATR Arina Puzriakova Mode of inheritance for gene: ATR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.24 ATM Arina Puzriakova Mode of inheritance for gene: ATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.23 ATR Arina Puzriakova Phenotypes for gene: ATR were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.22 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from to Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.21 APC Arina Puzriakova Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v1.20 APC Arina Puzriakova Phenotypes for gene: APC were changed from Gardner / fibromatosis; Gardner syndrome to Gardner syndrome, OMIM:175100; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.19 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from Sarcoma; Li-Fraumeni syndrome, 151623 to Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089
Sarcoma susceptibility v1.18 T Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Neural tube defects, susceptibility to}, OMIM:182940; Sacral agenesis with vertebral anomalies, OMIM:615709
Sarcoma susceptibility v1.18 T Arina Puzriakova Phenotypes for gene: T were changed from Familial Chordoma; Chordoma to Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978
Sarcoma susceptibility v1.17 SQSTM1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437; Myopathy, distal, with rimmed vacuoles, OMIM:617158; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Sarcoma susceptibility v1.17 SQSTM1 Arina Puzriakova Phenotypes for gene: SQSTM1 were changed from Osteosarcoma; Paget disease of bone 3 167250 to Paget disease of bone 3, OMIM:167250; Paget disease of bone 3, MONDO:0008176; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.16 RECQL4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Baller-Gerold syndrome, OMIM:218600
Sarcoma susceptibility v1.16 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma (disease), MONDO:0009807
Sarcoma susceptibility v1.15 NF1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321; Neurofibromatosis, familial spinal, OMIM:162210; Watson syndrome, OMIM:193520
Sarcoma susceptibility v1.15 NF1 Arina Puzriakova Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200 to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis type 1, MONDO:0018975
Sarcoma susceptibility v1.14 MTAP Arina Puzriakova Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250; Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205
Sarcoma susceptibility v1.13 EXT2 Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Seizures, scoliosis, and macrocephaly syndrome (MIM# 616682)
Sarcoma susceptibility v1.13 EXT2 Arina Puzriakova Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Exostoses, multiple, type 2, OMIM:133701; Exostoses, multiple, type 2, MONDO:0007586
Sarcoma susceptibility v1.12 EXT1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Exostoses, multiple, type 1 (MIM# 133700)
Sarcoma susceptibility v1.12 EXT1 Arina Puzriakova Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977
Osteopetrosis v1.3 AMER1 Eleanor Williams Phenotypes for gene: AMER1 were changed from Osteopathia striata with cranial sclerosis 300373 to Osteopathia striata with cranial sclerosis OMIM:300373
Common craniosynostosis syndromes v1.13 TWIST1 Eleanor Williams Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400 to Craniosynostosis 1 OMIM:123100; Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
Common craniosynostosis syndromes v1.12 TCF12 Eleanor Williams Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3 OMIM:615314
Common craniosynostosis syndromes v1.11 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans OMIM:612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601
Common craniosynostosis syndromes v1.10 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601
Common craniosynostosis syndromes v1.9 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410; Apert syndrome OMIM:101200; Beare-Stevenson cutis gyrata syndrome OMIM:123790; Pfeiffer syndrome OMIM:101600; Craniofacial-skeletal-dermatologic dysplasia OMIM:101600; Crouzon syndrome OMIM:123500; Jackson-Weiss syndrome OMIM:123150; Saethre-Chotzen syndrome OMIM:101400; Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579
Common craniosynostosis syndromes v1.8 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440
Common craniosynostosis syndromes v1.7 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600
Common craniosynostosis syndromes v1.6 ERF Eleanor Williams Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4 OMIM:600775
Common craniosynostosis syndromes v1.5 ERF Eleanor Williams Phenotypes for gene: ERF were changed from Chitayat syndrome 617180; Craniosynostosis 4 600775 to Craniosynostosis 4 600775
Common craniosynostosis syndromes v1.4 EFNB1 Eleanor Williams Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia OMIM:304110
Haematuria v2.11 CFHR5 Eleanor Williams Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809 to Nephropathy due to CFHR5 deficiency OMIM:614809
Haematuria v2.10 MYH9 Eleanor Williams Added comment: Comment on phenotypes: Note, Epstein syndrome #153650 and Fechtner syndrome #153640 have been merged by OMIM into Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Haematuria v2.10 MYH9 Eleanor Williams Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640 to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Haematuria v2.9 COL4A5 Eleanor Williams Phenotypes for gene: COL4A5 were changed from diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; Alport syndrome, 301050; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome; (originally on Alport syndrome gene panel) to Alport syndrome 1, X-linked OMIM:301050
Haematuria v2.8 COL4A4 Eleanor Williams Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal recessive; (originally on Alport syndrome gene panel) to Alport syndrome 2, autosomal recessive OMIM:203780; Hematuria, familial benign OMIM:141200
Haematuria v2.7 COL4A3 Eleanor Williams Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal dominant; Alport syndrome, autosomal recessive; Alport Syndrome; (originally on Alport syndrome gene panel) to Alport syndrome, autosomal dominant OMIM:104200; Alport syndrome, autosomal recessive OMIM:203780; Hematuria, benign familial OMIM:141200
Haematuria v2.6 COL4A1 Eleanor Williams Phenotypes for gene: COL4A1 were changed from Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; HANAC to Exophytic renal cysts; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
Polycystic liver disease v1.19 B9D1 Ivone Leong Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 to ?Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Polycystic liver disease v1.18 ALG9 Ivone Leong Phenotypes for gene: ALG9 were changed from ADPKD; PCLD to autosomal dominant polycystic kidney disease, MONDO:0004691; PCLD
Polycystic liver disease v1.17 SEC63 Ivone Leong Phenotypes for gene: SEC63 were changed from Polycystic Liver Disease 2 with or without kidney cysts (617004) to Polycystic liver disease 2, OMIM:617004
Polycystic liver disease v1.16 PRKCSH Ivone Leong Phenotypes for gene: PRKCSH were changed from Polycystic Liver Disease 1 with or without kidney cysts (174050) to Polycystic liver disease 1 OMIM:174050
Polycystic liver disease v1.15 PKHD1 Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4 with or without hepatic disease (263200) to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200; Caroli disease, MONDO:0010913
Polycystic liver disease v1.14 PKD2 Ivone Leong Phenotypes for gene: PKD2 were changed from Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) to Polycystic kidney disease 2, OMIM:613095; liver cysts
Polycystic liver disease v1.13 PKD1 Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913 to Polycystic kidney disease 1, OMIM:173900; Caroli disease, MONDO:0010913
Polycystic liver disease v1.12 PKD1 Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) to Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913
Polycystic liver disease v1.11 LRP5 Ivone Leong Phenotypes for gene: LRP5 were changed from Polycystic liver disease 4 with or without kidney cysts (617875) to Polycystic liver disease 4 with or without kidney cysts, OMIM:617875
Polycystic liver disease v1.10 GANAB Ivone Leong Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 (600666) to Polycystic kidney disease 3, OMIM:600666
Polycystic liver disease v1.9 DNAJB11 Ivone Leong Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061
Polycystic liver disease v1.8 ALG8 Ivone Leong Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) to Polycystic liver disease 3 with or without kidney cysts, OMIM:617874
Limb disorders v2.38 MECOM Ellen Thomas gene: MECOM was added
gene: MECOM was added to Limb disorders. Sources: Other
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis; Brachymesophalangia
Review for gene: MECOM was set to AMBER
Added comment: On bleeding disorders panels but also reported to have limb phenotypes in some patients
Sources: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 ARPC1B Nikolaos Marinakis reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33679784; Phenotypes: combined immunodeficiency, infections, allergy, inflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial rhabdoid tumours v1.6 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Rhabdoid tumors, somatic (MIM# 609322); {Schwannomatosis-1, susceptibility to} (MIM# 162091); Coffin-Siris syndrome 3 (MIM# 614608)
Familial rhabdoid tumours v1.6 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
Intellectual disability v3.980 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from Rhabdoid tumors, somatic, 609322Rhabdoid predisposition syndrome 1, 609322Mental retardation, autosomal dominant 15, 614608; RHABDOID PREDISPOSITION SYNDROME 1 to Coffin-Siris syndrome 3, OMIM:614608
Intellectual disability v3.979 SMARCA4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
Intellectual disability v3.979 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from Rhabdoid tumor predisposition syndrome 2, 613325Mental retardation, autosomal dominant 16, 614609; COFFIN SIRIS to Coffin-Siris syndrome 4, OMIM:614609
Childhood solid tumours v2.17 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from 613325; predisposition to small cell ca; Ovary with hypercalcemia to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Familial rhabdoid tumours v1.5 SMARCA4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 4 (MIM# 614609)
Familial rhabdoid tumours v1.5 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Inherited renal cancer v1.21 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from Renal cell carcinoma (disease), MONDO:000508 to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.20 TMEM127 Arina Puzriakova Phenotypes for gene: TMEM127 were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.19 SDHD Arina Puzriakova Mode of inheritance for gene: SDHD was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited renal cancer v1.18 SDHD Arina Puzriakova Publications for gene: SDHD were set to 27899189
Inherited renal cancer v1.17 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Renal cell carcinoma (disease), MONDO:000508
Inherited renal cancer v1.16 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.15 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.14 MITF Arina Puzriakova Phenotypes for gene: MITF were changed from to {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456; Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.13 MITF Arina Puzriakova Publications for gene: MITF were set to 27899189
Inherited renal cancer v1.12 CDKN2B Arina Puzriakova Phenotypes for gene: CDKN2B were changed from to Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.11 VHL Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Erythrocytosis, familial, 2 (MIM# 263400); Pheochromocytoma (MIM# 171300); Renal cell carcinoma, somatic (MIM# 144700)
Inherited renal cancer v1.11 VHL Arina Puzriakova Phenotypes for gene: VHL were changed from Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater to von Hippel-Lindau syndrome, OMIM:193300; von Hippel-Lindau disease, MONDO:0008667; Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.10 SDHB Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Gastrointestinal stromal tumor (MIM# 6067640; Paraganglioma and gastric stromal sarcoma (MIM# 606864); Pheochromocytoma (MIM# 171300)
Inherited renal cancer v1.10 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma. to Paragangliomas 4, OMIM:115310; Renal cell carcinoma (disease), MONDO:0005086
Inherited renal cancer v1.9 MET Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Deafness, autosomal recessive 97 (MIM# 616705); {Osteofibrous dysplasia, susceptibility to} (MIM# 607278); Hepatocellular carcinoma, childhood type, somatic (MIM# 114550)
Inherited renal cancer v1.9 MET Arina Puzriakova Phenotypes for gene: MET were changed from hereditary papillary renal carcinoma with type 1 papillary tumors to Renal cell carcinoma, papillary, 1, familial and somatic, OMIM:605074; Papillary renal cell carcinoma, MONDO:0017884
Inherited renal cancer v1.8 FLCN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, somatic (MIM# 114500); Pneumothorax, primary spontaneous (MIM# 173600); Renal carcinoma, chromophobe, somatic (MIM# 144700)
Inherited renal cancer v1.8 FLCN Arina Puzriakova Phenotypes for gene: FLCN were changed from Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas to Birt-Hogg-Dube syndrome, OMIM:135150; Renal carcinoma, MONDO:0005206
Inherited renal cancer v1.7 FH Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Fumarase deficiency (MIM# 606812)
Inherited renal cancer v1.7 FH Arina Puzriakova Phenotypes for gene: FH were changed from Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Inherited renal cancer v1.6 BAP1 Arina Puzriakova Phenotypes for gene: BAP1 were changed from Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type to Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692; Renal cell carcinoma (disease), MONDO:0005086; Clear cell renal carcinoma, MONDO:0005005
Inherited renal cancer v1.5 BAP1 Arina Puzriakova Publications for gene: BAP1 were set to
Inherited predisposition to GIST v1.11 NF1 Arina Puzriakova Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, OMIM:162200
Inherited predisposition to GIST v1.10 SDHD Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mitochondrial complex II deficiency, nuclear type 3 (MIM# 619167); Paragangliomas 1, with or without deafness (MIM# 168000); Pheochromocytoma (MIM# 171300)
Inherited predisposition to GIST v1.10 SDHD Arina Puzriakova Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Inherited predisposition to GIST v1.9 SDHC Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Paragangliomas 3 (MIM# 605373)
Inherited predisposition to GIST v1.9 SDHC Arina Puzriakova Phenotypes for gene: SDHC were changed from to Gastrointestinal stromal tumor, OMIM:606764; Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Inherited predisposition to GIST v1.8 SDHB Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Paragangliomas 4 (MIM# 115310) and Pheochromocytoma (MIM# 171300)
Inherited predisposition to GIST v1.8 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from to Gastrointestinal stromal tumor, OMIM:606764; Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Inherited predisposition to GIST v1.7 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from to Gastrointestinal stromal tumours
Inherited predisposition to GIST v1.6 PDGFRA Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Hypereosinophilic syndrome, idiopathic, resistant to imatinib (MIM# 607685)
Inherited predisposition to GIST v1.6 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285
Inherited predisposition to GIST v1.5 KIT Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Piebaldism (MIM# 172800); Mastocytosis, cutaneous (MIM# 154800); Mastocytosis, systemic, somatic (MIM# 154800); Germ cell tumors, somatic (MIM# 273300); Leukemia, acute myeloid, somatic (MIM# 601626)
Inherited predisposition to GIST v1.5 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Inherited polyposis and early onset colorectal cancer - germline testing v1.24 RNF43 Arina Puzriakova Publications for gene: RNF43 were set to
Inherited polyposis and early onset colorectal cancer - germline testing v1.23 RNF43 Arina Puzriakova Phenotypes for gene: RNF43 were changed from to Sessile serrated polyposis cancer syndrome, OMIM:617108
Inherited polyposis and early onset colorectal cancer - germline testing v1.22 MSH3 Arina Puzriakova Publications for gene: MSH3 were set to
Inherited polyposis and early onset colorectal cancer - germline testing v1.21 MSH3 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Endometrial carcinoma, somatic (MIM# 608089)
Inherited polyposis and early onset colorectal cancer - germline testing v1.21 MSH3 Arina Puzriakova Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4, OMIM:617100
Inherited polyposis and early onset colorectal cancer - germline testing v1.20 STK11 Arina Puzriakova Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome 175200 to Peutz-Jeghers syndrome, OMIM:175200; Peutz-Jeghers syndrome, MONDO:0008280
Inherited polyposis and early onset colorectal cancer - germline testing v1.19 SMAD4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Myhre syndrome (MIM# 139210) and Pancreatic cancer, somatic (MIM# 260350)
Inherited polyposis and early onset colorectal cancer - germline testing v1.19 SMAD4 Arina Puzriakova Phenotypes for gene: SMAD4 were changed from Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Polyposis, juvenile intestinal, OMIM:174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Hereditary neuropathy v1.383 VWA1 Alexander Rossor gene: VWA1 was added
gene: VWA1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA1 were set to PMID: 33459760
Phenotypes for gene: VWA1 were set to hereditary motor neuropathy
Penetrance for gene: VWA1 were set to Complete
Mode of pathogenicity for gene: VWA1 was set to Other
Review for gene: VWA1 was set to GREEN
Added comment: Bialleleic mutations in 6 unrelated families with a common phenotype
Sources: Expert list
Inherited polyposis and early onset colorectal cancer - germline testing v1.18 PTEN Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Glioma susceptibility 2} (MIM# 613028); {Meningioma} (MIM# 607174); Macrocephaly/autism syndrome (MIM# 605309); Prostate cancer, somatic (MIM# 176807)
Inherited polyposis and early onset colorectal cancer - germline testing v1.18 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Cowden syndrome 1, MONDO:0008021
Hereditary neuropathy v1.383 JAG1 Alexander Rossor gene: JAG1 was added
gene: JAG1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JAG1 were set to PMID: 32065591
Phenotypes for gene: JAG1 were set to Vocal cord palsy
Penetrance for gene: JAG1 were set to Complete
Mode of pathogenicity for gene: JAG1 was set to Other
Review for gene: JAG1 was set to AMBER
Added comment: Two unrelated families with segregation but no definite neuropathy in knock in mouse model
Sources: Expert list
Hereditary neuropathy v1.383 C1orf94 Alexander Rossor gene: C1orf94 was added
gene: C1orf94 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: C1orf94 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C1orf94 were set to PMID: 31199454
Phenotypes for gene: C1orf94 were set to Intermediate CMT
Penetrance for gene: C1orf94 were set to Complete
Mode of pathogenicity for gene: C1orf94 was set to Other
Review for gene: C1orf94 was set to GREEN
Added comment: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only
Sources: Expert list
Inherited polyposis and early onset colorectal cancer - germline testing v1.17 POLE Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with FILS syndrome (MIM# 615139) and IMAGE-I syndrome (MIM# 618336)
Inherited polyposis and early onset colorectal cancer - germline testing v1.17 POLE Arina Puzriakova Phenotypes for gene: POLE were changed from {Colorectal cancer, susceptibility to, 12} 615083 AD to {Colorectal cancer, susceptibility to, 12}, OMIM:615083
Inherited polyposis and early onset colorectal cancer - germline testing v1.16 POLD1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MIM# 615381)
Inherited polyposis and early onset colorectal cancer - germline testing v1.16 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10} 612591 to {Colorectal cancer, susceptibility to, 10}, OMIM:612591; Colorectal cancer, susceptibility to, 10, MONDO:0012953
Monogenic hearing loss v2.157 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381; Colorectalcancer,susceptibilityto,10},612591Mandibularhypoplasia,deafness,progeroidfeatures,andlipodystrophysyndrome,615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Intellectual disability v3.978 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular; hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.60 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Monogenic diabetes v2.14 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Inherited polyposis and early onset colorectal cancer - germline testing v1.15 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Mismatch repair cancer syndrome 4, OMIM:619101
Inherited polyposis and early onset colorectal cancer - germline testing v1.14 NTHL1 Arina Puzriakova Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3, OMIM:616415 to Familial adenomatous polyposis 3, OMIM:616415; NTHL1-related attenuated familial adenomatous polyposis, MONDO:0014630
Inherited polyposis and early onset colorectal cancer - germline testing v1.13 NTHL1 Arina Puzriakova Phenotypes for gene: NTHL1 were changed from Familial adenomatous polyposis 3 616415 to Familial adenomatous polyposis 3, OMIM:616415
Inherited polyposis and early onset colorectal cancer - germline testing v1.12 MUTYH Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Gastric cancer, somatic (MIM# 613659)
Inherited polyposis and early onset colorectal cancer - germline testing v1.12 MUTYH Arina Puzriakova Phenotypes for gene: MUTYH were changed from Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 to Adenomas, multiple colorectal, OMIM:608456
Inherited polyposis and early onset colorectal cancer - germline testing v1.11 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 to Mismatch repair cancer syndrome, OMIM:276300; Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Endometrial cancer, familial, OMIM:608089
Inherited polyposis and early onset colorectal cancer - germline testing v1.10 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR to Muir-Torre syndrome, OMIM:158320; Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Mismatch repair cancer syndrome, OMIM:276300
Inherited polyposis and early onset colorectal cancer - germline testing v1.9 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome OMIM:158320 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome, OMIM:158320
Inherited polyposis and early onset colorectal cancer - germline testing v1.8 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Mismatch repair cancer syndrome, OMIM:276300; Muir-Torre syndrome OMIM:158320
Inherited polyposis and early onset colorectal cancer - germline testing v1.7 EPCAM Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Diarrhea 5, with tufting enteropathy, congenital (MIM# 613217)
Inherited polyposis and early onset colorectal cancer - germline testing v1.7 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Hereditary neuropathy v1.383 SORD Alexander Rossor gene: SORD was added
gene: SORD was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SORD were set to PMID: 32367058
Phenotypes for gene: SORD were set to CMT2
Penetrance for gene: SORD were set to Complete
Review for gene: SORD was set to GREEN
Added comment: bialleleic variants present in more than 3 unrelated families
Sources: Expert list
Intellectual disability v3.977 SIAH1 Arina Puzriakova Classified gene: SIAH1 as Amber List (moderate evidence)
Intellectual disability v3.977 SIAH1 Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (5) to promote this gene to Green at the next GMS panel update. Developmental delay, including cognitive impairment, was a key presenting feature of the disease phenotype. Inclusion on this panel would also cover the infantile hypotonia element as the ID panel is a component panel of the 'Hypotonic infant, R69' super panel.
Intellectual disability v3.977 SIAH1 Arina Puzriakova Gene: siah1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.976 SIAH1 Arina Puzriakova gene: SIAH1 was added
gene: SIAH1 was added to Intellectual disability. Sources: Literature
Q2_21_rating tags were added to gene: SIAH1.
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Review for gene: SIAH1 was set to GREEN
Added comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Classified gene: SYCP2L as Amber List (moderate evidence)
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Added comment: Comment on list classification: Only 2 unrelated individuals in literature at present (PMID:32303603) and therefore rating Amber until further cases are reported.
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.20 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.35 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v2.83 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Review for gene: EN1 was set to GREEN
gene: EN1 was marked as current diagnostic
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Intellectual disability v3.975 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Mitochondrial disorders v2.20 POLRMT Zornitza Stark Deleted their comment
Mitochondrial disorders v2.20 POLRMT Zornitza Stark edited their review of gene: POLRMT: Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.; Changed rating: GREEN; Changed publications: 33602924; Changed phenotypes: Mitochondrial disorder, intellectual disability, hypotonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Ichthyosis and erythrokeratoderma v1.6 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.

Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Hereditary neuropathy or pain disorder v1.23 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770
Phenotypes for gene: SPTAN1 were set to Hereditary motor neuropathy
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: Gene previously associated with DEE.

PMID 32811770: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Sources: Literature
Adult onset neurodegenerative disorder v2.42 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSAP were set to 32201884
Phenotypes for gene: PSAP were set to Parkinson disease, AD
Review for gene: PSAP was set to GREEN
Added comment: Well established gene-disease association for bi-allelic variants.

Now early-onset PD reported with mono-allelic variants. 6 affecteds from 3 families. Age of onset ranges from 33-60. Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration.
Sources: Literature
Intellectual disability v3.975 MED27 Zornitza Stark gene: MED27 was added
gene: MED27 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Intellectual disability v3.975 SPEN Zornitza Stark edited their review of gene: SPEN: Added comment: PMID: 33596411
- 34 individuals with truncating variants in SPEN reported, most are de novo variants.
- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.; Changed rating: GREEN; Changed publications: 33057194, 33596411; Changed phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Set current diagnostic: yes
Bleeding and platelet disorders v1.20 MAST2 Zornitza Stark gene: MAST2 was added
gene: MAST2 was added to Bleeding and platelet disorders. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST2 were set to 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets.
Sources: Literature
Cerebral vascular malformations v2.8 ANGPTL6 Zornitza Stark gene: ANGPTL6 was added
gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPTL6 were set to 29304371; 33106390
Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm
Review for gene: ANGPTL6 was set to GREEN
gene: ANGPTL6 was marked as current diagnostic
Added comment: Six unrelated families reported.
Sources: Literature
Neurological ciliopathies v1.15 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Congenital myopathy v2.28 ASCC3 Zornitza Stark gene: ASCC3 was added
gene: ASCC3 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Phenotypes for gene: ASCC3 were set to congenital myopathy
Review for gene: ASCC3 was set to GREEN
Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: Literature
Lysosomal storage disorder v1.11 ARSG Zornitza Stark reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Monogenic hearing loss v2.156 CRYM Zornitza Stark reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia v1.212 EEF2 Eleanor Williams commented on gene: EEF2: Waiting on opinion of Genomics England clinical team as to rating and additional panels for this gene.
Hereditary ataxia v1.212 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 23001565; 33355653
Phenotypes for gene: EEF2 were set to Spinocerebellar ataxia 26 OMIM:609306
Review for gene: EEF2 was set to AMBER
Added comment: Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case.

PMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity.

PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Lysosomal storage disorder v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.10 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Lysosomal storage disorder v1.9 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Lysosomal storage disorder v1.8 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Lysosomal storage disorder v1.7 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis 228000 to Farber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218
Lysosomal storage disorder v1.6 ARSB Sarah Leigh Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200; mucopolysaccharidosis type 6 MONDO:0009661
Lysosomal storage disorder v1.5 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy 250100 to Metachromatic leukodystrophy OMIM:250100; metachromatic leukodystrophy, juvenile form MONDO:0009591
Lysosomal storage disorder v1.4 AGA Sarah Leigh Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 to Aspartylglucosaminuria OMIM:208400; aspartylglucosaminuria MONDO:0008830
Familial chylomicronaemia syndrome (FCS) v1.15 LIPI Sarah Leigh Phenotypes for gene: LIPI were changed from hypertriglyceridemia to hypertriglyceridemia (disease) MONDO:0005347
Familial chylomicronaemia syndrome (FCS) v1.14 LPL Sarah Leigh Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 to Lipoprotein lipase deficiency OMIM:238600; familial lipoprotein lipase deficiency MONDO:0009387; Combined hyperlipidemia, familial OMIM:144250; hyperlipidemia, familial combined, LPL related MONDO:0007759
Familial chylomicronaemia syndrome (FCS) v1.13 LMF1 Sarah Leigh Phenotypes for gene: LMF1 were changed from Lipase deficiency, combined 246650 to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527
Familial chylomicronaemia syndrome (FCS) v1.12 GPIHBP1 Sarah Leigh Phenotypes for gene: GPIHBP1 were changed from Hyperlipoproteinemia, type 1D 615947 to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412
Familial chylomicronaemia syndrome (FCS) v1.11 GPD1 Sarah Leigh Phenotypes for gene: GPD1 were changed from Hypertriglyceridemia, transient infantile 614480 to Hypertriglyceridemia, transient infantile OMIM:614480; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Familial chylomicronaemia syndrome (FCS) v1.10 CREB3L3 Sarah Leigh Added comment: Comment on phenotypes: There is not an OMIM or Mondo term for monogenic dominant hypertriglyceridemia associated with CREB3L3, so MONDO:0005347 has been used as a broader term
Familial chylomicronaemia syndrome (FCS) v1.10 CREB3L3 Sarah Leigh Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to hypertriglyceridemia (disease) MONDO:0005347
Familial chylomicronaemia syndrome (FCS) v1.9 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III OMIM:617347; hyperlipoproteinemia type 3 MONDO:0018473; Lipoprotein glomerulopathy OMIM:611771; lipoprotein glomerulopathy MONDO:0012725
Familial chylomicronaemia syndrome (FCS) v1.8 APOE Sarah Leigh Added comment: Comment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310
Familial chylomicronaemia syndrome (FCS) v1.8 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310
Familial chylomicronaemia syndrome (FCS) v1.7 APOC2 Sarah Leigh Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib 207750 to Hyperlipoproteinemia, type Ib OMIM:207750
Familial chylomicronaemia syndrome (FCS) v1.6 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252
Familial chylomicronaemia syndrome (FCS) v1.5 APOA5 Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases of Amyotrophic lateral sclerosis 19.; Changed rating: GREEN
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset neurodegenerative disorder v2.42 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v2.41 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from Amyotrophic lateral sclerosis 19, 615515 to Amyotrophic lateral sclerosis 19 OMIM:615515; amyotrophic lateral sclerosis type 19 MONDO:0014223
Adult onset neurodegenerative disorder v2.40 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 24119685
Intellectual disability v3.975 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123; 15219717; 30498032
Intellectual disability v3.974 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Intellectual disability v3.974 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability v3.973 ERBB4 Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of structural variants.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of copy number variants.
Intellectual disability v3.973 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. PMID 33603162 reports that at least six 2q34 deletions resulting in exon loss in ERBB4 may cause autosomal dominant mild to moderate developmental delay, ID or epilepsy. Rhodent knock out models support this finding (PMID 15219717;30498032).; Changed rating: GREEN; Changed publications: 15219717, 30498032; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.973 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Intellectual disability v3.973 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of structural variants.
Intellectual disability v3.973 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.972 ERBB4 Sarah Leigh Added comment: Comment on phenotypes: Amyotrophic lateral sclerosis 19 615515 is not appropriate for this panel At present there is no precise ID phenotype associated with variants in this gene.
Intellectual disability v3.972 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from intellectual disability; epilepsy to intellectual disability MONDO:0001071
Intellectual disability v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to Monoallelic MOI until consult with Genomics England clinical team.
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.633 KIDINS220 Eleanor Williams Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity. to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI from monallelic to BOTH as 2 biallelic cases have now been reported with a more severe phenotype
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.631 KIDINS220 Eleanor Williams Publications for gene: KIDINS220 were set to
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 22048169
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures in the following two publications:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 28934391; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited predisposition to acute myeloid leukaemia (AML) v1.19 SRP72 Arina Puzriakova Publications for gene: SRP72 were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v1.18 SAMD9 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with MIRAGE syndrome (MIM# 617053) and Tumoral calcinosis, familial, normophosphatemic (MIM# 610455)
Inherited predisposition to acute myeloid leukaemia (AML) v1.18 SAMD9 Arina Puzriakova Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
Inherited predisposition to acute myeloid leukaemia (AML) v1.17 SAMD9 Arina Puzriakova Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Inherited predisposition to acute myeloid leukaemia (AML) v1.16 RTEL1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (MIM# 616373)
Inherited predisposition to acute myeloid leukaemia (AML) v1.16 RTEL1 Arina Puzriakova Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 to Dyskeratosis congenita, autosomal dominant 4, OMIM:615190; Dyskeratosis congenita, autosomal recessive 5, OMIM:615190
Inherited predisposition to acute myeloid leukaemia (AML) v1.15 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Adrenocortical carcinoma, pediatric} (MIM#202300); {Basal cell carcinoma 7} (MIM# 614740), {Choroid plexus papilloma} (MIM# 260500); {Colorectal cancer}, (MIM# 114500); {Glioma susceptibility 1} (MIM# 137800); {Osteosarcoma} (MIM# 259500); Bone marrow failure syndrome 5 (MIM# 618165); Breast cancer, somatic (MIM# 114480); Hepatocellular carcinoma, somatic (MIM# 114550); Nasopharyngeal carcinoma, somatic (MIM# 607107); Pancreatic cancer, somatic (MIM# 260350)
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from 151623 (OMIM phenotype description ID); 151623 Li-Fraumeni syndrome to Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome 1, MONDO:0007903
Inherited predisposition to acute myeloid leukaemia (AML) v1.13 TERT Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (MIM# 614742) and Melanoma, cutaneous malignant, 9 (MIM# 615134)
Inherited predisposition to acute myeloid leukaemia (AML) v1.13 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Inherited predisposition to acute myeloid leukaemia (AML) v1.12 TERC Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis, idiopathic, susceptibility to (MIM#614743)
Inherited predisposition to acute myeloid leukaemia (AML) v1.12 TERC Arina Puzriakova Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743 to Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; {Aplastic anemia}, OMIM:614743
Inherited predisposition to acute myeloid leukaemia (AML) v1.11 RUNX1 Arina Puzriakova Phenotypes for gene: RUNX1 were changed from 601399 (OMIM phenotype description ID); 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy to Leukemia, acute myeloid, OMIM:601626; Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399
Inherited predisposition to acute myeloid leukaemia (AML) v1.10 GATA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Immunodeficiency 21 (MIM# 614172)
Inherited predisposition to acute myeloid leukaemia (AML) v1.10 GATA2 Arina Puzriakova Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to} to {Leukemia, acute myeloid, susceptibility to}, OMIM:601626; {Myelodysplastic syndrome, susceptibility to}, OMIM:614286; Emberger syndrome, OMIM:614038
Stickler syndrome v2.16 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.15 LOXL3 Ivone Leong Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.14 BMP4 Ivone Leong Phenotypes for gene: BMP4 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.13 GZF1 Ivone Leong Phenotypes for gene: GZF1 were changed from Larsen syndrome to Larsen syndrome, MONDO:0007875
Stickler syndrome v2.12 COL9A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia
Stickler syndrome v2.12 COL9A3 Ivone Leong Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354
Inherited predisposition to acute myeloid leukaemia (AML) v1.9 ETV6 Arina Puzriakova Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to Leukemia, acute myeloid, somatic, OMIM:601626; Thrombocytopenia 5, OMIM:616216; Acute myeloid leukemia, MONDO:0018874
Stickler syndrome v2.11 COL9A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 2, 600204;{Intervertebral disc disease, susceptibility to}, 603932;Stickler syndrome, type V, 614284
Stickler syndrome v2.11 COL9A2 Ivone Leong Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to ?Stickler syndrome, type V, OMIM:614284
Stickler syndrome v2.10 COL9A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 6, 614135;Stickler syndrome, type IV, 614134;Stickler Syndrome, Recessive
Stickler syndrome v2.10 COL9A1 Ivone Leong Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135; Stickler syndrome, type IV, 614134; Stickler Syndrome, Recessive to Stickler syndrome, type IV, OMIM:614134
Stickler syndrome v2.9 COL2A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Stickler syndrome v2.9 COL2A1 Ivone Leong Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300
Stickler syndrome v2.8 COL2A1 Ivone Leong Publications for gene: COL2A1 were set to PMID: 16752401; 20513134
Stickler syndrome v2.7 COL11A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524
Stickler syndrome v2.7 COL11A2 Ivone Leong Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
Inherited predisposition to acute myeloid leukaemia (AML) v1.8 ETV6 Arina Puzriakova Publications for gene: ETV6 were set to 28600339
Stickler syndrome v2.6 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Inherited predisposition to acute myeloid leukaemia (AML) v1.7 DDX41 Arina Puzriakova Phenotypes for gene: DDX41 were changed from 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; 616871 (OMIM phenotype description ID) to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871; DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809
Stickler syndrome v2.5 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841
Stickler syndrome v2.4 COL11A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520
Stickler syndrome v2.4 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841
Inherited predisposition to acute myeloid leukaemia (AML) v1.6 CEBPA Arina Puzriakova Phenotypes for gene: CEBPA were changed from 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID); 116897 / 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to ?Leukemia, acute myeloid, OMIM:601626; Leukemia, acute myeloid, somatic, OMIM:601626; Acute myeloid leukemia, MONDO:0018874
Inherited predisposition to acute myeloid leukaemia (AML) v1.5 ANKRD26 Arina Puzriakova Phenotypes for gene: ANKRD26 were changed from 610855; 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) to Thrombocytopenia 2, OMIM:188000; Acute myeloid leukemia, MONDO:0018874
Congenital fibrosis of the extraocular muscles v1.11 TUBB2B Ivone Leong Publications for gene: TUBB2B were set to 23001566
Congenital fibrosis of the extraocular muscles v1.10 TUBB2B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with ortical dysplasia, complex, with other brain malformations 7
Congenital fibrosis of the extraocular muscles v1.10 TUBB2B Ivone Leong Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7; Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614
Congenital fibrosis of the extraocular muscles v1.9 GRHL2 Ivone Leong Phenotypes for gene: GRHL2 were changed from Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614
Congenital fibrosis of the extraocular muscles v1.8 COL25A1 Ivone Leong Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5 616219; Fibrosis of extraocular muscles, congenital, 5 to Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Congenital fibrosis of the extraocular muscles v1.7 TUBB3 Ivone Leong Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
Congenital fibrosis of the extraocular muscles v1.6 PHOX2A Ivone Leong Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, OMIM:602078
Congenital fibrosis of the extraocular muscles v1.5 KIF21A Ivone Leong Phenotypes for gene: KIF21A were changed from Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, OMIM:135700; Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700
Sporadic aniridia v2.12 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142 to ?Aniridia 3, OMIM:617142
Sporadic aniridia v2.11 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141 to ?Aniridia 2, OMIM:617141
Sporadic aniridia v2.10 PITX2 Ivone Leong Phenotypes for gene: PITX2 were changed from to Aniridia, MONDO:0019172
Sporadic aniridia v2.9 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210 to Aniridia, OMIM:106210
Sporadic aniridia v2.8 ITPR1 Ivone Leong Phenotypes for gene: ITPR1 were changed from Gillespie syndrome 206700 to Gillespie syndrome, OMIM:206700
Sporadic aniridia v2.7 FOXC1 Ivone Leong Phenotypes for gene: FOXC1 were changed from to Aniridia, MONDO:0019172
Monogenic diabetes v2.13 GATA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis and congenital heart defects;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.13 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.12 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Pancreatic agenesis and/or congenital heart defects;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.12 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to NEONATAL DIABETES MELLITUS, MONDO:0016391; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.11 DYRK1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.11 DYRK1B Ivone Leong Phenotypes for gene: DYRK1B were changed from Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to Abdominal obesity-metabolic syndrome 3, OMIM:615812
Monogenic diabetes v2.10 DNAJC3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192;Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration
Monogenic diabetes v2.10 DNAJC3 Ivone Leong Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Monogenic diabetes v2.9 DCAF17 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Woodhouse-Sakati syndrome, 241080;Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
Monogenic diabetes v2.9 DCAF17 Ivone Leong Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness) to Woodhouse-Sakati syndrome, OMIM:241080
Monogenic diabetes v2.8 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, OMIM:604928
Monogenic diabetes v2.7 CEL Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction to Maturity-onset diabetes of the young, type VIII, OMIM:609812; Diabetes and pancreatic exocrine dysfunction
Monogenic diabetes v2.6 APPL1 Ivone Leong Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes to {Maturity-onset diabetes of the young, type 14}, OMIM:616511
Monogenic diabetes v2.5 ABCC8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, 6;Transient Neonatal Diabetes, Dominant;transient neonatal diabetes (Dominant);Diabetes mellitus, noninsulin-dependent, 125853;DIABETES MELLITUS, NONINSULIN-DEPENDENT;Diabetes mellitus, transient neonatal 2, 610374;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Hypoglycemia of infancy, leucine-sensitive, 240800;Permanent neonatal diabetes mellitus;Permanent Neonatal Diabetes Mellitus (recessive);Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus
Monogenic diabetes v2.5 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus (recessive); Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Permanent Neonatal Diabetes Mellitus to Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant); Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, transient neonatal 2, OMIM:610374; Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)
Inherited polyposis and early onset colorectal cancer - germline testing v1.6 BMPR1A Arina Puzriakova Phenotypes for gene: BMPR1A were changed from Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis to Polyposis syndrome, hereditary mixed, 2, OMIM:610069; Polyposis, juvenile intestinal, OMIM:174900
Inherited polyposis and early onset colorectal cancer - germline testing v1.5 APC Arina Puzriakova Phenotypes for gene: APC were changed from Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 to Desmoid disease, hereditary, OMIM:135290; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Adenomatous polyposis coli, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182
Neonatal diabetes v2.33 AGPAT2 Ivone Leong Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to neonatal diabetes mellitus, MONDO:0016391
Neonatal diabetes v2.32 AGPAT2 Ivone Leong Publications for gene: AGPAT2 were set to Poovazhagi et al., Int J Diabetes Dev Ctries (January–March 2013) 33(1):66–68, DOI 10.1007/s13410-012-0099-6
Neonatal diabetes v2.31 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes, Recessive; Transient Neonatal Diabetes to Diabetes mellitus, transient neonatal, 1, OMIM:601410
Neonatal diabetes v2.30 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes; Wolfram syndrome, 222300 to Wolfram-like syndrome, autosomal dominant, OMIM:614296
Inherited pancreatic cancer v1.17 STK11 Arina Puzriakova Phenotypes for gene: STK11 were changed from to Pancreatic cancer, somatic, OMIM:260350
Inherited pancreatic cancer v1.16 RABL3 Arina Puzriakova Phenotypes for gene: RABL3 were changed from Hereditary pancreatic cancer to {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680; Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Neonatal diabetes v2.29 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes and additional multi-organ autoimmunity;permanent neonatal diabetes;Neonatal diabetes and early-onset multi-organ autoimmune disease
Neonatal diabetes v2.29 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pancreatitis, hereditary (MIM#167800)
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Phenotypes for gene: PRSS1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Neonatal diabetes v2.28 SLC2A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Fanconi-Bickel syndrome, 227810;neonatal diabetes mellitus;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes (PDNM);Fanconi Bickel Syndrome;neonatal diabetes;short stature;hepatomegaly, RTA and hypophosphatemic rickets
Neonatal diabetes v2.28 SLC2A2 Ivone Leong Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes (PDNM); Fanconi Bickel Syndrome; neonatal diabetes; short stature; hepatomegaly, RTA and hypophosphatemic rickets to Fanconi-Bickel syndrome, OMIM:227810; neonatal diabetes mellitus, MONDO:0016391; transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164
Inherited pancreatic cancer v1.14 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited pancreatic cancer v1.14 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.13 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited pancreatic cancer v1.13 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.12 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited pancreatic cancer v1.12 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Neonatal diabetes v2.27 SLC19A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thiamine-responsive megaloblastic anemia syndrome, 249270;neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA);permanent neonatal diabetes (PNDM);Thiamine responsive megaloblastic anaemia;neonatal diabetes
Neonatal diabetes v2.27 SLC19A2 Ivone Leong Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Neonatal diabetes v2.26 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710 (includes neonatal diabetes);Syndromic Neonatal diabetes;pancreatic hypoplasia, gallbladder aplasia and intestinal atresia;Mitchell-Riley syndrome
Neonatal diabetes v2.26 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome to Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)
Neonatal diabetes v2.25 PTF1A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069;Permanent neonatal diabetes mellitus (PNDM);Permanent neonatal diabetes with cerebellar agenesis
Neonatal diabetes v2.25 PTF1A Ivone Leong Phenotypes for gene: PTF1A were changed from Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069; Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis to Pancreatic and cerebellar agenesis, OMIM:609069; Permanent neonatal diabetes mellitus, MONDO:0100164; Pancreatic agenesis 2, OMIM:615935
Neonatal diabetes v2.24 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes;pancreas agenesis;permanent neonatal diabetes mellitus associated with pancreas agenesis;Pancreatic agenesis 1, 260370
Neonatal diabetes v2.24 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; pancreas agenesis; permanent neonatal diabetes mellitus associated with pancreas agenesis; Pancreatic agenesis 1, 260370 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392; Permanent neonatal diabetes mellitus, MONDO:0100164; permanent neonatal diabetes mellitus associated with pancreas agenesis
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited ovarian cancer (without breast cancer) v2.20 MLH1 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320); to: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Neonatal diabetes v2.23 NKX2-2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Neonatal diabetes v2.23 NKX2-2 Ivone Leong Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment to Neonatal diabetes mellitus, MONDO:0016391; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Neonatal diabetes v2.22 NEUROG3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)

Permanent neonatal diabetes mellitus, MONDO:0100164;
Diarrhea 4, malabsorptive, congenital, OMIM:610370
Neonatal diabetes v2.22 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS) to Permanent neonatal diabetes mellitus, MONDO:0100164; Diarrhea 4, malabsorptive, congenital, OMIM:610370
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma, cutaneous malignant, 3} (MIM# 609048)
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Phenotypes for gene: CDK4 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Neonatal diabetes v2.21 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and cerebellar agenesis;Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus;Maturity-onset diabetes of the young 6, 606394
Neonatal diabetes v2.21 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394 to permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192; Maturity-onset diabetes of the young 6, OMIM:606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
Inherited pancreatic cancer v1.9 CDK4 Arina Puzriakova Mode of pathogenicity for gene: CDK4 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
Neonatal diabetes v2.20 MNX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
Neonatal Diabetes;Permanent neonatal diabetes mellitus (PNDM);Recessive Neonatal diabetes;IUGR;w w/o eatures of Currarrino syndrome and sacral agenesis;Currarino syndrome, 176450
Neonatal diabetes v2.20 MNX1 Ivone Leong Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450 to Neonatal Diabetes Mellitus, MONDO:0016391; Permanent neonatal diabetes mellitus, MONDO:0100164; Currarino syndrome, OMIM:176450
Neonatal diabetes v2.19 LRBA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Immunodysregulation and type 1 diabetes;Immunodeficiency, common variable, 8, with autoimmunity, 614700;IPEX-like syndrome;Neonatal diabetes and additional autoimmunity
Neonatal diabetes v2.19 LRBA Ivone Leong Phenotypes for gene: LRBA were changed from Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity
Neonatal diabetes v2.18 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;{Diabetes mellitus, type 2, susceptibility to}, 125853;Diabetes mellitus, transient neonatal, 3, 610582;Transient Neonatal Diabetes, Dominant;Diabetes Mellitus, PermanentNeonatal;Diabetes Mellitus, Transient Neonatal, 3;Transient Neonatal diabetes mellitus (Dominant);Isolated permanent neonatal diabetes;isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Neonatal diabetes v2.18 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853; Diabetes mellitus, transient neonatal, 3, OMIM:610582; Maturity-onset diabetes of the young, type 13, OMIM:616329
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 1} (MIM# 604370) and Fanconi anemia, complementation group S (MIM# 617883)
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from to {Pancreatic cancer, susceptibility to, 4}, OMIM:614320; Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, susceptibility to} (MIM# 114480) and Fanconi anemia, complementation group N (MIM# 610832)
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Phenotypes for gene: PALB2 were changed from to {Pancreatic cancer, susceptibility to, 3}, OMIM:613348; Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma and neural system tumor syndrome} (MIM# 155755) and {Melanoma, cutaneous malignant, 2} (MIM# 155601)
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from to {Melanoma-pancreatic cancer syndrome}, OMIM:606719; Melanoma-pancreatic cancer syndrome, MONDO:0011713
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 2} (MIM# 612555); {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to {Pancreatic cancer 2}, OMIM:613347; Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Neonatal diabetes v2.17 INSR Ivone Leong Phenotypes for gene: INSR were changed from neonatal diabetes; Donohue syndrome, 246200 to neonatal diabetes; Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Rabson-Mendenhall syndrome, OMIM:262190
Inherited ovarian cancer (without breast cancer) v2.20 BRCA2 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724); to: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); {Pancreatic cancer 2} (MIM# 613347); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Monogenic hearing loss v2.156 MYO15A Eleanor Williams Phenotypes for gene: MYO15A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 3, 600316; hearing loss to Deafness, autosomal recessive 3 OMIM:600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Monogenic hearing loss v2.155 MYO15A Eleanor Williams Publications for gene: MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
Monogenic hearing loss v2.154 MYO15A Eleanor Williams reviewed gene: MYO15A: Rating: ; Mode of pathogenicity: None; Publications: 33078831; Phenotypes: Deafness, autosomal recessive 3 OMIM:600316, autosomal recessive nonsyndromic deafness 3 MONDO:0010860; Mode of inheritance: None
Neonatal diabetes v2.16 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852;Transient Neonatal Diabetes, Dominant/Recessive;Permanent Neonatal diabetes mellitus
Neonatal diabetes v2.16 INS Ivone Leong Phenotypes for gene: INS were changed from Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; Permanent Neonatal diabetes mellitus to Hyperproinsulinemia, OMIM:616214; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive); Permanent Neonatal diabetes mellitus, MONDO:010016
Neonatal diabetes v2.15 IL2RA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
neonatal diabetes;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
Neonatal diabetes v2.15 IL2RA Ivone Leong Phenotypes for gene: IL2RA were changed from neonatal diabetes; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive to neonatal diabetes mellitus, MONDO:0016391; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942; neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
Neonatal diabetes v2.14 IER3IP1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with neonatal diabetes, permanent neonatal diabetes
Neonatal diabetes v2.14 IER3IP1 Ivone Leong Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes to Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Neonatal diabetes v2.13 HNF1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes mellitus;Diabetes mellitus, noninsulin-dependent, 125853;Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Neonatal diabetes v2.13 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes mellitus; Diabetes mellitus, noninsulin-dependent, 125853; Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW to Transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164; Type 2 diabetes mellitus, OMIM:125853; transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Neonatal diabetes v2.12 GLIS3 Ivone Leong Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism to Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199
Neonatal diabetes v2.11 GCK Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
MODY, type II, 125851;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Diabetes mellitus, gestational, 125851;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, permanent neonatal, 606176;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Recessive;Permanent neonatal diabetes;Fasting hyperglycaemia, permanent neonatal diabetes
Neonatal diabetes v2.11 GCK Ivone Leong Phenotypes for gene: GCK were changed from MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Permanent neonatal diabetes; Fasting hyperglycaemia, permanent neonatal diabetes to MODY, type II, OMIM:125851; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, permanent neonatal 1, OMIM:606176; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
Neonatal diabetes v2.10 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects to Pancreatic agenesis and congenital heart defects, OMIM:600001; neonatal diabetes mellitus, MONDO:0016391
Neonatal diabetes v2.9 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects;permanent neonatal diabetes melllitus;transient neonatal diabetes melllitus
Neonatal diabetes v2.9 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects; permanent neonatal diabetes melllitus; transient neonatal diabetes melllitus to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; permanent neonatal diabetes melllitus, MONDO:0100164; Transient neonatal diabetes mellitus (disease), MONDO:0020525
Neonatal diabetes v2.8 FOXP3 Ivone Leong Phenotypes for gene: FOXP3 were changed from Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)); IPEX syndrome to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
Neonatal diabetes v2.7 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148 to diabetes mellitus (disease), MONDO:0005015; MEHMO syndrome, OMIM:300148
Neonatal diabetes v2.6 EIF2AK3 Ivone Leong Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy) to Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Monogenic hearing loss v2.154 MYO3A Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as biallelic, but note that 2 independent cases of monallelic inheritance have been reported.
Monogenic hearing loss v2.154 MYO3A Eleanor Williams Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v2.153 MYO3A Eleanor Williams Phenotypes for gene: MYO3A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 30, 607101; hearing loss to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774
Monogenic hearing loss v2.152 MYO3A Eleanor Williams Publications for gene: MYO3A were set to PMID:10936054; 12032315; 21165622
Monogenic hearing loss v2.151 MYO3A Eleanor Williams reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 26841241, 29880844; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101, autosomal recessive nonsyndromic deafness 30 MONDO:0011774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.19 RAD51D Arina Puzriakova Phenotypes for gene: RAD51D were changed from {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291; Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669
Inherited ovarian cancer (without breast cancer) v2.18 RAD51D Arina Puzriakova Publications for gene: RAD51D were set to
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group O (MIM# 613390)
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Phenotypes for gene: RAD51C were changed from Fanconi anemia, complementation group O, 613390; {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399; Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253
Inherited ovarian cancer (without breast cancer) v2.16 RAD51C Arina Puzriakova Publications for gene: RAD51C were set to
Monogenic hearing loss v2.151 COL9A3 Eleanor Williams Classified gene: COL9A3 as Amber List (moderate evidence)
Monogenic hearing loss v2.151 COL9A3 Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber, but there are now 4 cases with homozygous variants in this gene in patients with hearing loss. 2 cases are reported with Stickler syndrome. In the other 2 cases Stickler syndrome was not excluded. The phenotype needs to be reviewed to decide whether to encompass Stickler syndrome genes on this panel.
Monogenic hearing loss v2.151 COL9A3 Eleanor Williams Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.14 MSH6 Arina Puzriakova Publications for gene: MSH6 were set to
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Monogenic hearing loss v2.150 COL9A3 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving as Biallelic mode of inheritance as 4 cases reported with this inheritance pattern. However PMID: 15917166 also reports two cases with an AD pattern of inheritance, but no segregation data to support this.
Monogenic hearing loss v2.150 COL9A3 Eleanor Williams Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v2.12 MSH2 Arina Puzriakova Publications for gene: MSH2 were set to
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Adult Glioma; Colorectal; Endometrial Carcinoma; Hepatopancreatobiliary; Ovarian to Ovarian cancer, MONDO:0008170
Monogenic hearing loss v2.149 COL9A3 Eleanor Williams Tag Q2_21_phenotype tag was added to gene: COL9A3.
Monogenic hearing loss v2.149 COL9A3 Eleanor Williams edited their review of gene: COL9A3: Changed rating: GREEN
Monogenic hearing loss v2.149 COL9A3 Eleanor Williams edited their review of gene: COL9A3: Added comment: PMID: 33078831 - Wonkam et al 2020 - report 2 unrelated patients from Cameroon with autosomal recessive non-syndromic hearing impairment and a homozygous c.G406A, p.G136S variant in COL9A3. This variant is rare (ExAC_AFR MAF = 0, ExAC_ASI MAF = 0.001, Cameroonian controls MAF (N = 129) = 0). However, the authors report that further investigation of these patients is needed to exclude Stickler syndrome.

PMID: 15917166 - Asamura et al 2005 - direct-sequencing of COL9A3 gene in 159 non-syndromic sensorineural deafness patients (Japanese and Korean) and 150 normal controls. 2 possible disease-causing mutations were identified in patients with moderate progressive bilateral sensorineural hearing impairment in all frequencies. : a homozygous in-frame deletion of three amino acid residues (G181-P183 del) in one patient (with consanguineous parents) and a heterozygous missense mutation (D617E) found in 2 independent autosomal dominant families. No segregation data.; Changed publications: 31090205, 24273071, 33078831, 15917166; Changed phenotypes: Stickler syndrome, non-syndromic sensorineural deafness
Inherited ovarian cancer (without breast cancer) v2.10 MLH1 Arina Puzriakova Publications for gene: MLH1 were set to
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group J (MIM# 609054)
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419
Inherited ovarian cancer (without breast cancer) v2.8 BRIP1 Arina Puzriakova Publications for gene: BRIP1 were set to
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with 'Pancreatic cancer, susceptibility to, 4' (MIM# 614320) and 'Fanconi anemia, complementation group S' (MIM# 617883)
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited MMR deficiency (Lynch syndrome) v1.9 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.8 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.7 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.6 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.5 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249
Inherited MMR deficiency (Lynch syndrome) v1.4 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244; Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196
Iron metabolism disorders - NOT common HFE mutations v1.33 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282 to Emphysema due to AAT deficiency OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders - NOT common HFE mutations v1.32 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY P to ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders - NOT common HFE mutations v1.31 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY to ALPHA-1-ANTITRYPSIN DEFICIENCY P
Iron metabolism disorders - NOT common HFE mutations v1.30 SEC23B Sarah Leigh Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134
Iron metabolism disorders - NOT common HFE mutations v1.29 ACVR1 Sarah Leigh Added comment: Comment on phenotypes: This phenotype does not appear to be relevant to this panel.
Iron metabolism disorders - NOT common HFE mutations v1.29 ACVR1 Sarah Leigh Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100
Iron metabolism disorders - NOT common HFE mutations v1.28 STEAP3 Sarah Leigh Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234; severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094
Iron metabolism disorders - NOT common HFE mutations v1.27 HEPH Sarah Leigh Publications for gene: HEPH were set to
Iron metabolism disorders - NOT common HFE mutations v1.26 FTH1 Sarah Leigh Phenotypes for gene: FTH1 were changed from 615517 ?Hemochromatosis, type 5; HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 to ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225
Iron metabolism disorders - NOT common HFE mutations v1.25 FECH Sarah Leigh Phenotypes for gene: FECH were changed from EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 to Protoporphyria, erythropoietic, 1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Iron metabolism disorders - NOT common HFE mutations v1.24 TFR2 Sarah Leigh Phenotypes for gene: TFR2 were changed from 604250 HEMOCHROMATOSIS, TYPE 3; 604250 Hemochromatosis, type 3; HFE3 to Hemochromatosis, type 3 OMIM:604250; hemochromatosis type 3 MONDO:0011417
Iron metabolism disorders - NOT common HFE mutations v1.23 TF Sarah Leigh Phenotypes for gene: TF were changed from 209300 Atransferrinemia, Hypoferritinaemia; 209300 Atransferrinemia to Atransferrinemia OMIM:209300; atransferrinemia MONDO:0008846
Iron metabolism disorders - NOT common HFE mutations v1.22 SLC40A1 Sarah Leigh Phenotypes for gene: SLC40A1 were changed from HFE4; 606069 Hemochromatosis, type 4; 606069 HEMOCHROMATOSIS, TYPE 4 to Hemochromatosis, type 4 OMIM:606069; hemochromatosis type 4 MONDO:0011631
Iron metabolism disorders - NOT common HFE mutations v1.21 SLC25A38 Sarah Leigh Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950; sideroblastic anemia 2 MONDO:0008785
Iron metabolism disorders - NOT common HFE mutations v1.20 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100 to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100; microcytic anemia with liver iron overload MONDO:0008787
Iron metabolism disorders - NOT common HFE mutations v1.19 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100
Iron metabolism disorders - NOT common HFE mutations v1.18 HFE2 Sarah Leigh Phenotypes for gene: HFE2 were changed from HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A to Hemochromatosis, type 2A OMIM:602390
Iron metabolism disorders - NOT common HFE mutations v1.17 HAMP Sarah Leigh Phenotypes for gene: HAMP were changed from 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B to Hemochromatosis, type 2B OMIM:613313
Iron metabolism disorders - NOT common HFE mutations v1.16 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
Iron metabolism disorders - NOT common HFE mutations v1.15 GBA Sarah Leigh Phenotypes for gene: GBA were changed from 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I to Gaucher disease, type II OMIM:230900; Gaucher disease, type IIIC OMIM:231005; Gaucher disease, type III OMIM:231000; Gaucher disease, type I OMIM:230800
Iron metabolism disorders - NOT common HFE mutations v1.14 FTL Sarah Leigh edited their review of gene: FTL: Added comment: The MOI for FTL should be "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to detect biallielic variants found in L-ferritin deficiency, dominant and recessive OMIM:615604.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v1.14 FTL Sarah Leigh Tag Q2_21_MOI tag was added to gene: FTL.
Iron metabolism disorders - NOT common HFE mutations v1.14 FTL Sarah Leigh Phenotypes for gene: FTL were changed from Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders - NOT common HFE mutations v1.13 FTL Sarah Leigh Deleted their comment
Iron metabolism disorders - NOT common HFE mutations v1.13 FTL Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159
Iron metabolism disorders - NOT common HFE mutations v1.12 FTL Sarah Leigh Added comment: Comment on phenotypes: L-ferritin deficiency, dominant and recessive OMIM:615604;Hyperferritinemia-cataract syndrome OMIM:600886;Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders - NOT common HFE mutations v1.12 FTL Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
Iron metabolism disorders - NOT common HFE mutations v1.11 CYBRD1 Sarah Leigh Added comment: Comment on phenotypes: There is no OMIM, MONDO or ORPHANET disease association to this gene. The term hereditary hemochromatosis MONDO:0006507 was chosen as it represent the general disease described in the limited literature associated with this gene.
Iron metabolism disorders - NOT common HFE mutations v1.11 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from hereditary hemochromatosis MONDO:0006507 to hereditary hemochromatosis MONDO:0006507
Iron metabolism disorders - NOT common HFE mutations v1.10 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload; Iron overload to hereditary hemochromatosis MONDO:0006507
Neonatal diabetes v2.5 BSCL2 Ivone Leong Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, OMIM:269700
Neonatal diabetes v2.4 ABCC8 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Neonatal diabetes v2.4 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Diabetes mellitus, transient neonatal 2, OMIM:610374; Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
Iron metabolism disorders - NOT common HFE mutations v1.9 CP Sarah Leigh Phenotypes for gene: CP were changed from 604290 Hemosiderosis, systemic, due to aceruloplasminemia; 604290 ACERULOPLASMINEMIA to aceruloplasminemia MONDO:0011426; Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Iron metabolism disorders - NOT common HFE mutations v1.8 BMP6 Sarah Leigh Phenotypes for gene: BMP6 were changed from NA IRON OVERLOAD; 112266 Mild to moderate iron overload; Iron overload to Hemochromatosis type 5 ORPHA:447792
Primary pigmented nodular adrenocortical disease v1.7 PRKAR1A Ivone Leong Phenotypes for gene: PRKAR1A were changed from Pigmented nodular adrenocortical disease, primary, 1, 610489 to Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489
Primary pigmented nodular adrenocortical disease v1.6 PDE8B Ivone Leong Phenotypes for gene: PDE8B were changed from Pigmented nodular adrenocortical disease, primary, 3, 614190 to Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190
Primary pigmented nodular adrenocortical disease v1.5 PDE11A Ivone Leong Phenotypes for gene: PDE11A were changed from Pigmented nodular adrenocortical disease, primary, 2, 610475 to Pigmented nodular adrenocortical disease, primary, 2, OMIM:610475
Primary pigmented nodular adrenocortical disease v1.4 ARMC5 Ivone Leong Phenotypes for gene: ARMC5 were changed from ACTH-independent macronodular adrenal hyperplasia 2, 615954 to ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954
Familial tumoral calcinosis v1.7 KL Ivone Leong Phenotypes for gene: KL were changed from Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 to Tumoral calcinosis, hyperphosphatemic, familial, 3, OMIM:617994
Familial tumoral calcinosis v1.6 SAMD9 Ivone Leong Phenotypes for gene: SAMD9 were changed from Tumoral calcinosis, familial, normophosphatemic, 610455 to Tumoral calcinosis, familial, normophosphatemic, OMIM:610455
Familial tumoral calcinosis v1.5 GALNT3 Ivone Leong Phenotypes for gene: GALNT3 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Familial tumoral calcinosis v1.4 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 to Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993
Iron metabolism disorders - NOT common HFE mutations v1.7 BMP6 Sarah Leigh Publications for gene: BMP6 were set to 26582087
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ulnar-mammary syndrome 181450
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Phenotypes for gene: TBX3 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.36 TBX3 Ivone Leong Publications for gene: TBX3 were set to
Progressive cardiac conduction disease v1.35 KCNK17 Ivone Leong Phenotypes for gene: KCNK17 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.34 KCNK17 Ivone Leong Publications for gene: KCNK17 were set to
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.32 GJA5 Ivone Leong Publications for gene: GJA5 were set to
Progressive cardiac conduction disease v1.31 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.29 ANK2 Ivone Leong Publications for gene: ANK2 were set to
Progressive cardiac conduction disease v1.28 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Heart conduction disease, MONDO:0000992
Iron metabolism disorders - NOT common HFE mutations v1.6 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin to Protoporphyria, erythropoietic, X-linked OMIM:300752; Anemia, sideroblastic, 1 OMIM:300751; X-linked erythropoietic protoporphyria MONDO:0010420; X-linked sideroblastic anemia 1 MONDO:0020721
Progressive cardiac conduction disease v1.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559 to Progressive familial heart block, type IB, OMIM:604559
Progressive cardiac conduction disease v1.26 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725; 29748318; 30021168
Progressive cardiac conduction disease v1.25 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome 142900 to Holt-Oram syndrome, OMIM:142900
Progressive cardiac conduction disease v1.24 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838
Progressive cardiac conduction disease v1.23 CLCA2 Ivone Leong Phenotypes for gene: CLCA2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.22 TTR Ivone Leong Phenotypes for gene: TTR were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.21 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117
Progressive cardiac conduction disease v1.20 TNNI3K Ivone Leong Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVE
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE; Lenegre-Lev disease; Heart block, progressive, type IA; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PROGRESSIVE FAMILIAL HEART BLOCK (113900) to Heart block, progressive, OMIM:113900; Heart block, progressive, type IA, OMIM:113900
Progressive cardiac conduction disease v1.18 SCN5A Ivone Leong Publications for gene: SCN5A were set to
Progressive cardiac conduction disease v1.17 PRKAG2 Ivone Leong Phenotypes for gene: PRKAG2 were changed from Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects to Wolff-Parkinson-White syndrome, OMIM:194200
Progressive cardiac conduction disease v1.16 PRKAG2 Ivone Leong Publications for gene: PRKAG2 were set to
Progressive cardiac conduction disease v1.15 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from Atrial septal defect 7, with or without AV conduction defects 108900 to Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Progressive cardiac conduction disease v1.14 DES Ivone Leong Publications for gene: DES were set to
Progressive cardiac conduction disease v1.13 LMNA Ivone Leong Publications for gene: LMNA were set to
Progressive cardiac conduction disease v1.12 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from Laminopathy-associated AV conduction block to Laminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Brugada syndrome 8 613123
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Brugada syndrome 8 613123; Sick sinus syndrome 2 163800 to Sick sinus syndrome 2, OMIM:163800
Progressive cardiac conduction disease v1.10 GLA Ivone Leong Phenotypes for gene: GLA were changed from Fabry disease, cardiac variant, 301500 to Fabry disease, cardiac variant, OMIM:301500
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 to Heart conduction disease, MONDO:0000992
Mitochondrial disorders v2.20 APOO Arina Puzriakova gene: APOO was added
gene: APOO was added to Mitochondrial disorders. Sources: Literature
Skewed X-inactivation tags were added to gene: APOO.
Mode of inheritance for gene: APOO 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: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to RED
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Progressive cardiac conduction disease v1.8 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.7 DES Ivone Leong Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Glycogen storage disease v1.6 RBCK1 Sarah Leigh Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Glycogen storage disease v1.5 RBCK1 Sarah Leigh edited their review of gene: RBCK1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.; Changed rating: GREEN
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Tag Q2_21_rating tag was added to gene: RBCK1.
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Classified gene: RBCK1 as Amber List (moderate evidence)
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Gene: rbck1 has been classified as Amber List (Moderate Evidence).
Familial hypercholesterolaemia (GMS) v1.8 PCSK9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with {Low density lipoprotein cholesterol level QTL 1}, 603776
Familial hypercholesterolaemia (GMS) v1.8 PCSK9 Ivone Leong Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3, 603776; Familial Hypercholesterolaemia; Hypercholesterolemia; {Low density lipoprotein cholesterol level QTL 1}, 603776; Familial Hypercholesterolemia to Hypercholesterolemia, familial, 3, OMIM:603776
Familial hypercholesterolaemia (GMS) v1.7 LDLRAP1 Ivone Leong Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, 4, OMIM:603813
Familial hypercholesterolaemia (GMS) v1.6 LDLR Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with LDL cholesterol level QTL2, 143890
Familial hypercholesterolaemia (GMS) v1.6 LDLR Ivone Leong Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial to Hypercholesterolemia, familial, 1, OMIM:143890
Familial hypercholesterolaemia (GMS) v1.5 APOE Ivone Leong Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347 to Hyperlipoproteinemia, type III, OMIM:617347
Familial hypercholesterolaemia (GMS) v1.4 APOB Ivone Leong Phenotypes for gene: APOB were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia, familial, 2, 144010; Hypercholesterolemia to Hypercholesterolemia, familial, 2, OMIM:144010
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Short QT syndrome 3, OMIM:609622, Short QT syndrome type 3, MONDO:0012314, Atrial fibrillation, familial, 9, OMIM:613980, Atrial fibrillation, familial, 9, MONDO:0013513, Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.17 KCNE1 Ivone Leong Phenotypes for gene: KCNE1 were changed from Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.16 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from catecholaminergic polymorphic ventricular tachycardia to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.15 TECRL Ivone Leong Phenotypes for gene: TECRL were changed from Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 to Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021
Catecholaminergic polymorphic VT v2.14 TRDN Ivone Leong Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441); catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 2 (600996)
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 1; Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Arrhythmogenic right ventricular dysplasia 2 (600996); Catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
Catecholaminergic polymorphic VT v2.12 CASQ2 Ivone Leong Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Ventricular tachycardia, catecholaminergic polymorphic, 2 to Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 16,618782
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Phenotypes for gene: CALM3 were changed from ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782 to ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 15, 616249
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Phenotypes for gene: CALM2 were changed from Long QT syndrome 15, 616249 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.9 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) to Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 14 (616247)
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Brugada syndrome and cardiac sodium channel disease v2.33 KCNJ8 Ivone Leong Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.32 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119) to ?Brugada syndrome 6, OMIM:613119
Brugada syndrome and cardiac sodium channel disease v2.31 CAV3 Ivone Leong Phenotypes for gene: CAV3 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.30 CACNA2D1 Ivone Leong Phenotypes for gene: CACNA2D1 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.29 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.28 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.27 TRPM4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Progressive familial heart block, type IB 604559
Brugada syndrome and cardiac sodium channel disease v2.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559; Progressive familial heart block, type IB (604559) to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.26 SLMAP Ivone Leong Phenotypes for gene: SLMAP were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.25 SCN3B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 16 (613120)
Brugada syndrome and cardiac sodium channel disease v2.25 SCN3B Ivone Leong Phenotypes for gene: SCN3B were changed from Brugada syndrome 7; Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) to Brugada syndrome 7, OMIM:613120
Brugada syndrome and cardiac sodium channel disease v2.24 SCN2B Ivone Leong Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.23 SCN1B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac conduction defect, nonspecific (612838), Atrial fibrillation, familial, 13 (615377), Epileptic encephalopathy, early infantile, 52 (617350), Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Brugada syndrome and cardiac sodium channel disease v2.23 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5; Brugada syndrome 5 (612838); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) to Brugada syndrome 5, OMIM:612838
Brugada syndrome and cardiac sodium channel disease v2.22 SCN10A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Episodic pain syndrome, familial, 2 (615551)
Brugada syndrome and cardiac sodium channel disease v2.22 SCN10A Ivone Leong Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 (615551) to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.21 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.20 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.19 PKP2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy
Brugada syndrome and cardiac sodium channel disease v2.19 PKP2 Ivone Leong Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (609040); Brugada syndrome; Arrhythmogenic right ventricular cardiomyopathy ; Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.18 KCNE5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with atrial fibrillation
Brugada syndrome and cardiac sodium channel disease v2.18 KCNE5 Ivone Leong Phenotypes for gene: KCNE5 were changed from atrial fibrillation; Brugada syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.17 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119); Brugada syndrome 6 to ?Brugada syndrome 6 (613119)
Brugada syndrome and cardiac sodium channel disease v2.16 KCND3 Ivone Leong Phenotypes for gene: KCND3 were changed from Brugada/Brugada like syndrome to Brugada syndrome 9, OMIM:616399
Brugada syndrome and cardiac sodium channel disease v2.15 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777) to Brugada syndrome 2, OMIM:611777
Brugada syndrome and cardiac sodium channel disease v2.14 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Sick sinus syndrome 2 (163800)
Brugada syndrome and cardiac sodium channel disease v2.14 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Sick sinus syndrome 2 (163800); Brugada syndrome 8; Brugada syndrome 8 (613123) to Brugada syndrome 8, OMIM:613123
Brugada syndrome and cardiac sodium channel disease v2.13 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777); Brugada syndrome 2 to Brugada syndrome 2 (611777)
Brugada syndrome and cardiac sodium channel disease v2.12 DLG1 Ivone Leong Phenotypes for gene: DLG1 were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome and cardiac sodium channel disease v2.11 CACNB2 Ivone Leong Phenotypes for gene: CACNB2 were changed from Brugada syndrome 4; Brugada syndrome 4 (611876) to Brugada syndrome 4 (611876)
Brugada syndrome and cardiac sodium channel disease v2.10 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 to Brugada syndrome 3, MONDO:0012742
Brugada syndrome and cardiac sodium channel disease v2.9 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919)
Brugada syndrome and cardiac sodium channel disease v2.9 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Long QT syndrome 4 (600919); Cardiac arrhythmia, ankyrin-B-related (600919); Brugada/Brugada like syndrome to Brugada/Brugada like syndrome
Brugada syndrome and cardiac sodium channel disease v2.8 ABCC9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiomyopathy, dilated, 1O (608569), Atrial fibrillation, familial, 12 (614050) and Dilated cardiomyopathy
Brugada syndrome and cardiac sodium channel disease v2.8 ABCC9 Ivone Leong Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O (608569); Brugada syndrome; Atrial fibrillation, familial, 12 (614050); Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Intellectual disability v3.970 SETD1B Arina Puzriakova Publications for gene: SETD1B were set to 29322246; 27106595; 25428890; 31110234
Intellectual disability v3.969 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Early onset or syndromic epilepsy v2.305 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Early onset or syndromic epilepsy v2.304 SETD1B Arina Puzriakova Publications for gene: SETD1B were set to 20648245; 27106595; 25428890; 22369279; 29322246; 31440728; 31685013
Rare anaemia v1.18 C15orf41 Arina Puzriakova Publications for gene: C15orf41 were set to 23716552; 29031773; 29885034
Cytopenias and congenital anaemias v1.83 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Rare anaemia v1.17 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital dyserythropoietic anaemia type 1b; 615631 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Rare anaemia v1.16 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 16098079; 12434312
Rare anaemia v1.15 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Congenital dyserythropoietic anaemia type 1a to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Iron metabolism disorders - NOT common HFE mutations v1.5 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Cytopenias and congenital anaemias v1.82 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 12434312
Cytopenias and congenital anaemias v1.81 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.630 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type I 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.629 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to
Fetal anomalies v1.628 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30786798, 29668551, 29599085; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, OMIM:224120, Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Classified gene: CDAN1 as Green List (high evidence)
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Added comment: Comment on list classification: Fetal-onset congenital dyserythropoietic anemia type 1 due to biallelic CDAN1 variants can present in utero with hydrops fetalis. Sufficient cases to ascertain causation.
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Gene: cdan1 has been classified as Green List (High Evidence).
Fetal hydrops v1.24 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Brugada syndrome and cardiac sodium channel disease v2.7 KCNH2 Ivone Leong Added comment: Comment on phenotypes: KCNH2 is also associated with Long QT syndrome 2, OMIM:613688 and Short QT syndrome 1, OMIM:609620
Brugada syndrome and cardiac sodium channel disease v2.7 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 to Brugada/Brugada like syndrome
Brugada syndrome and cardiac sodium channel disease v2.6 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from Brugada syndrome 1, 601144; MONDO_0015263 to Brugada syndrome 1, 601144; Brugada syndrome 1, MONDO:0011001
Familial chylomicronaemia syndrome (FCS) v1.4 APOB Julie Evans commented on gene: APOB
Optic neuropathy v2.38 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from Optic atrophy 9; 616289; optic atrophy, nystagmus; Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802; ?Optic atrophy 9, OMIM:616289; Optic atrophy 9, MONDO:0014571
Intellectual disability v3.968 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Ataxia and cerebellar anomalies - narrow panel v2.54 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, MIM#614559 to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Ataxia and cerebellar anomalies - narrow panel v2.53 ACO2 Arina Puzriakova Publications for gene: ACO2 were set to 32519519
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACO2.
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Classified gene: ACO2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene should be promoted to Green at the next GMS panel update.

Sufficient unrelated cases to ascertain causation (see publications list). Childhood-onset ataxia often reported as a core feature of the disease presentation, particularly in milder cases. Both episodic and classic forms have been described.
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Gene: aco2 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.32 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190
Differences in sex development v2.31 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190; 2238701
Differences in sex development v2.30 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190
Ataxia and cerebellar anomalies - narrow panel v2.51 THG1L Arina Puzriakova Tag watchlist tag was added to gene: THG1L.
Ataxia and cerebellar anomalies - narrow panel v2.51 THG1L Arina Puzriakova Phenotypes for gene: THG1L were changed from Cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Spinocerebellar ataxia, autosomal recessive 28, MONDO:0032923
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Classified gene: THG1L as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Added comment: Comment on list classification: Ataxia only reported in 3 Ashkenazi Jewish families with the same p.V55A founder variant. Unclear whether the fourth case with a different variant (p.L294P) displayed ataxia. Therefore, additional cases or functional analysis of the p.V55A variant are required prior to upgrading this gene to Green.
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Gene: thg1l has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.49 THG1L Arina Puzriakova reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 27307223, 31168944, 30214071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v2.29 FGFR2 Ivone Leong Phenotypes for gene: FGFR2 were changed from LADD syndrome 149730; Bent bone dysplasia syndrome 614592 to LADD syndrome, OMIM:149730; Bent bone dysplasia syndrome, OMIM:614592
Differences in sex development v2.28 GATA4 Ivone Leong Tag Q2_21_rating tag was added to gene: GATA4.
Differences in sex development v2.28 GATA4 Ivone Leong Classified gene: GATA4 as Amber List (moderate evidence)
Differences in sex development v2.28 GATA4 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Differences in sex development v2.28 GATA4 Ivone Leong Gene: gata4 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.27 GATA4 Ivone Leong Publications for gene: GATA4 were set to 21220346
Differences in sex development v2.26 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from ?Testicular anomalies with or without congenital heart disease 615542 to ?Testicular anomalies with or without congenital heart disease, OMIM:615542
Differences in sex development v2.25 HOXA13 Ivone Leong Classified gene: HOXA13 as Amber List (moderate evidence)
Differences in sex development v2.25 HOXA13 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Differences in sex development v2.25 HOXA13 Ivone Leong Gene: hoxa13 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.24 HOXA13 Ivone Leong Tag Q2_21_rating tag was added to gene: HOXA13.
Differences in sex development v2.24 HOXA13 Ivone Leong Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, OMIM:140000
Differences in sex development v2.23 PAX8 Ivone Leong Classified gene: PAX8 as Amber List (moderate evidence)
Differences in sex development v2.23 PAX8 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating as more evidence is required to support a gene-disease association.
Differences in sex development v2.23 PAX8 Ivone Leong Gene: pax8 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.22 PAX8 Ivone Leong Tag watchlist tag was added to gene: PAX8.
Differences in sex development v2.22 PAX8 Ivone Leong Added comment: Comment on publications: PMID: 25484916 describes a case of a patient with MRKH and hypothyroidism with a de novo deletion of 2q13-14.2 region (includes PAX8).

PMID: 31731040 describes a second case of a patient with MRKH and congenital thyroid gland hypoplasia with a de novo interstitial 2q12.1q14.1 deletion (the region includes PAX8).

In both PMID: 25484916 and 31731040, the authors theorise that PAX8 may be responsible.
Differences in sex development v2.22 PAX8 Ivone Leong Publications for gene: PAX8 were set to 33434492
Differences in sex development v2.21 PAX8 Ivone Leong Phenotypes for gene: PAX8 were changed from Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771
Differences in sex development v2.20 PBX1 Ivone Leong Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; 46,XY partial gonadal dysgenesis, MONDO:0016674
Differences in sex development v2.19 PBX1 Ivone Leong Tag watchlist tag was added to gene: PBX1.
Differences in sex development v2.19 PBX1 Ivone Leong Classified gene: PBX1 as Amber List (moderate evidence)
Differences in sex development v2.19 PBX1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association, this gene has been given an Amber rating.
Differences in sex development v2.19 PBX1 Ivone Leong Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including progressive cerebellar ataxia (PMID: 31855247)
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence)
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including optic nerve atrophy (PMID: 31855247).
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v2.36 SLC44A1 Arina Puzriakova gene: SLC44A1 was added
gene: SLC44A1 was added to Optic neuropathy. Sources: Literature
Q2_21_rating tags were added to gene: SLC44A1.
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868; Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
Review for gene: SLC44A1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM (MIM# 618868), but not yet in Gene2Phenotype.

- PMID: 31855247 (2020) - Four individuals from three families with different homozygous frameshift variants (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in SLC44A1. Clinical features in all affected individuals included progressive ataxia, tremor, cognitive decline, bilateral optic nerve atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrated cerebellar atrophy and leukoencephalopathy. Functional studies indicate choline transporter deficiency as the underlying pathological mechanism.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.48 SLC44A1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC44A1.
Ataxia and cerebellar anomalies - narrow panel v2.48 SLC44A1 Arina Puzriakova reviewed gene: SLC44A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31855247; Phenotypes: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences in sex development v2.18 NR2F2 Ivone Leong Tag Q2_21_rating tag was added to gene: NR2F2.
Differences in sex development v2.18 NR2F2 Ivone Leong Classified gene: NR2F2 as Amber List (moderate evidence)
Differences in sex development v2.18 NR2F2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be Green at the next review.
Differences in sex development v2.18 NR2F2 Ivone Leong Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Differences in sex development v2.17 NR2F2 Ivone Leong Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46,XX sex reversal 5, OMIM:618901; 46,XX sex reversal 5, MONDO:0030049
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 RHOG Arina Puzriakova Classified gene: RHOG as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 RHOG Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case reported at present (PMID: 33513601). Relevant phenotype and some supportive functional data included.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.402 RHOG Arina Puzriakova Gene: rhog has been classified as Red List (Low Evidence).
Limb disorders v2.38 KCNN3 Arina Puzriakova Classified gene: KCNN3 as Amber List (moderate evidence)
Limb disorders v2.38 KCNN3 Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update - sufficient unrelated cases to establish causation. Mild end of the radial ray spectrum from reports to date, however included.
Limb disorders v2.38 KCNN3 Arina Puzriakova Gene: kcnn3 has been classified as Amber List (Moderate Evidence).
Limb disorders v2.37 KCNN3 Arina Puzriakova gene: KCNN3 was added
gene: KCNN3 was added to Limb disorders. Sources: Literature
Q2_21_rating tags were added to gene: KCNN3.
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to 31155282; 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658; Zimmermann-laband syndrome 3, MONDO:0032854
Mode of pathogenicity for gene: KCNN3 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: KCNN3 was set to GREEN
Added comment: Associated with 'Zimmermann-Laband syndrome' in OMIM (MIM# 618658) and Gene2Phenotype ('probable' disease confidence rating).

At least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia and hypertrichosis. Radial ray defects mostly within the milder end of the spectrum but do include hypoplasia of the terminal phalanges and aplasia/hypoplasia of nails on hands and feet.
Sources: Literature
Intellectual disability v3.967 KCNN3 Arina Puzriakova Publications for gene: KCNN3 were set to 31155282
Intellectual disability v3.966 KCNN3 Arina Puzriakova edited their review of gene: KCNN3: Added comment: Now at least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID.; Changed publications: 31155282, 33594261
Adult onset neurodegenerative disorder v2.39 ISCA-37478-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37478-Loss.
Adult onset neurodegenerative disorder v2.39 ISCA-37478-Gain Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37478-Gain.
Adult onset neurodegenerative disorder v2.39 ISCA-37468-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37468-Loss.
Adult onset neurodegenerative disorder v2.39 ISCA-37404-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37404-Loss.
Monogenic diabetes v2.4 ISCA-37432-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37432-Loss.
Intellectual disability v3.966 PPP2R2B_CAG Arina Puzriakova Tag curated_removed tag was added to STR: PPP2R2B_CAG.
Intellectual disability v3.966 CSTB_CCCCGCCCCGCG Arina Puzriakova Tag curated_removed tag was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability v3.966 C9orf72_GGGGCC Arina Puzriakova Tag curated_removed tag was added to STR: C9orf72_GGGGCC.
Intellectual disability v3.966 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Undiagnosed metabolic disorders v1.447 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Intellectual disability v3.966 ATXN3_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN3_CAG.
Intellectual disability v3.966 ATXN1_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN1_CAG.
Intellectual disability v3.966 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy v2.16 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hereditary neuropathy v1.383 NOP56_GGCCTGTT Arina Puzriakova Tag STR tag was added to STR: NOP56_GGCCTGTT.
Tag curated_removed tag was added to STR: NOP56_GGCCTGTT.
Hereditary ataxia v1.211 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Primary ovarian insufficiency v1.19 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Intellectual disability v3.966 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Skeletal dysplasia v2.83 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Thoracic dystrophies v1.12 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Early onset dystonia v1.86 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Intellectual disability v3.966 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.29 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v1.20 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary ataxia with onset in adulthood v2.25 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Adult onset neurodegenerative disorder v2.39 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Adult onset hereditary spastic paraplegia v1.16 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Childhood onset hereditary spastic paraplegia v2.28 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Structural basal ganglia disorders v1.18 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Ataxia and cerebellar anomalies - narrow panel v2.48 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Brain channelopathy v1.59 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Sudden death in young people v1.15 TMPO Arina Puzriakova Tag curated_removed tag was added to gene: TMPO.
Sudden death in young people v1.15 SLC25A4 Arina Puzriakova Tag curated_removed tag was added to gene: SLC25A4.
Sudden death in young people v1.15 SCN4B Arina Puzriakova Tag curated_removed tag was added to gene: SCN4B.
Sudden death in young people v1.15 RYR2 Arina Puzriakova Tag curated_removed tag was added to gene: RYR2.
Sudden death in young people v1.15 NKX2-5 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-5.
Sudden death in young people v1.15 MYLK2 Arina Puzriakova Tag curated_removed tag was added to gene: MYLK2.
Sudden death in young people v1.15 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Sudden death in young people v1.15 MT-ND1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND1.
Sudden death in young people v1.15 MT-CYB Arina Puzriakova Tag curated_removed tag was added to gene: MT-CYB.
Sudden death in young people v1.15 IL6 Arina Puzriakova Tag curated_removed tag was added to gene: IL6.
Sudden death in young people v1.15 IL10 Arina Puzriakova Tag curated_removed tag was added to gene: IL10.
Sudden death in young people v1.15 FEV Arina Puzriakova Tag curated_removed tag was added to gene: FEV.
Sudden death in young people v1.15 CTNNA3 Arina Puzriakova Tag curated_removed tag was added to gene: CTNNA3.
Sudden death in young people v1.15 CAV3 Arina Puzriakova Tag curated_removed tag was added to gene: CAV3.
Sudden death in young people v1.15 AQP4 Arina Puzriakova Tag curated_removed tag was added to gene: AQP4.
Sudden death in young people v1.15 AKAP9 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP9.
Sudden death in young people v1.15 AKAP10 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP10.
Sudden death in young people v1.15 ACADM Arina Puzriakova Tag curated_removed tag was added to gene: ACADM.
Sudden death in young people v1.15 AARS2 Arina Puzriakova Tag curated_removed tag was added to gene: AARS2.
Rare multisystem ciliopathy disorders v1.139 ATD Arina Puzriakova Tag curated_removed tag was added to gene: ATD.
Primary ovarian insufficiency v1.19 BMPR1B-AS1 Arina Puzriakova Tag curated_removed tag was added to gene: BMPR1B-AS1.
Primary ciliary disorders v1.29 ATXN10 Arina Puzriakova Tag curated_removed tag was added to gene: ATXN10.
Parkinson Disease and Complex Parkinsonism v1.69 EPHB4 Arina Puzriakova Tag curated_removed tag was added to gene: EPHB4.
Ocular coloboma v1.42 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Ocular and oculo-cutaneous albinism v1.21 OCA5 Arina Puzriakova Tag curated_removed tag was added to gene: OCA5.
Multi-organ autoimmune diabetes v1.8 ZFP57 Arina Puzriakova Tag curated_removed tag was added to gene: ZFP57.
Multi-organ autoimmune diabetes v1.8 WFS1 Arina Puzriakova Tag curated_removed tag was added to gene: WFS1.
Multi-organ autoimmune diabetes v1.8 SLC2A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC2A2.
Multi-organ autoimmune diabetes v1.8 SLC19A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC19A2.
Multi-organ autoimmune diabetes v1.8 RFX6 Arina Puzriakova Tag curated_removed tag was added to gene: RFX6.
Multi-organ autoimmune diabetes v1.8 PTF1A Arina Puzriakova Tag curated_removed tag was added to gene: PTF1A.
Multi-organ autoimmune diabetes v1.8 PPARG Arina Puzriakova Tag curated_removed tag was added to gene: PPARG.
Multi-organ autoimmune diabetes v1.8 PDX1 Arina Puzriakova Tag curated_removed tag was added to gene: PDX1.
Multi-organ autoimmune diabetes v1.8 PAX4 Arina Puzriakova Tag curated_removed tag was added to gene: PAX4.
Multi-organ autoimmune diabetes v1.8 NKX2-2 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-2.
Multi-organ autoimmune diabetes v1.8 NEUROG3 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROG3.
Multi-organ autoimmune diabetes v1.8 NEUROD1 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROD1.
Multi-organ autoimmune diabetes v1.8 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Multi-organ autoimmune diabetes v1.8 MNX1 Arina Puzriakova Tag curated_removed tag was added to gene: MNX1.
Multi-organ autoimmune diabetes v1.8 LMNA Arina Puzriakova Tag curated_removed tag was added to gene: LMNA.
Multi-organ autoimmune diabetes v1.8 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Multi-organ autoimmune diabetes v1.8 KLF11 Arina Puzriakova Tag curated_removed tag was added to gene: KLF11.
Multi-organ autoimmune diabetes v1.8 KCNJ11 Arina Puzriakova Tag curated_removed tag was added to gene: KCNJ11.
Multi-organ autoimmune diabetes v1.8 INSR Arina Puzriakova Tag curated_removed tag was added to gene: INSR.
Multi-organ autoimmune diabetes v1.8 INS Arina Puzriakova Tag curated_removed tag was added to gene: INS.
Multi-organ autoimmune diabetes v1.8 IER3IP1 Arina Puzriakova Tag curated_removed tag was added to gene: IER3IP1.
Multi-organ autoimmune diabetes v1.8 HNF4A Arina Puzriakova Tag curated_removed tag was added to gene: HNF4A.
Multi-organ autoimmune diabetes v1.8 HNF1B Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B.
Multi-organ autoimmune diabetes v1.8 HNF1A Arina Puzriakova Tag curated_removed tag was added to gene: HNF1A.
Multi-organ autoimmune diabetes v1.8 GLIS3 Arina Puzriakova Tag curated_removed tag was added to gene: GLIS3.
Multi-organ autoimmune diabetes v1.8 GCK Arina Puzriakova Tag curated_removed tag was added to gene: GCK.
Multi-organ autoimmune diabetes v1.8 GATA6 Arina Puzriakova Tag curated_removed tag was added to gene: GATA6.
Multi-organ autoimmune diabetes v1.8 GATA4 Arina Puzriakova Tag curated_removed tag was added to gene: GATA4.
Multi-organ autoimmune diabetes v1.8 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Multi-organ autoimmune diabetes v1.8 EIF2AK3 Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3.
Multi-organ autoimmune diabetes v1.8 CEL Arina Puzriakova Tag curated_removed tag was added to gene: CEL.
Multi-organ autoimmune diabetes v1.8 BLK Arina Puzriakova Tag curated_removed tag was added to gene: BLK.
Multi-organ autoimmune diabetes v1.8 AVPR2 Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
Multi-organ autoimmune diabetes v1.8 AVP Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
Multi-organ autoimmune diabetes v1.8 AQP2 Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
Multi-organ autoimmune diabetes v1.8 AKT2 Arina Puzriakova Tag curated_removed tag was added to gene: AKT2.
Multi-organ autoimmune diabetes v1.8 ABCC8 Arina Puzriakova Tag curated_removed tag was added to gene: ABCC8.
Hereditary spastic paraplegia v1.219 SPG41 Arina Puzriakova Tag curated_removed tag was added to gene: SPG41.
Hereditary spastic paraplegia v1.219 SPG38 Arina Puzriakova Tag curated_removed tag was added to gene: SPG38.
Hereditary spastic paraplegia v1.219 SPG37 Arina Puzriakova Tag curated_removed tag was added to gene: SPG37.
Hereditary spastic paraplegia v1.219 SPG36 Arina Puzriakova Tag curated_removed tag was added to gene: SPG36.
Hereditary spastic paraplegia v1.219 SPG34 Arina Puzriakova Tag curated_removed tag was added to gene: SPG34.
Hereditary spastic paraplegia v1.219 SPG32 Arina Puzriakova Tag curated_removed tag was added to gene: SPG32.
Hereditary spastic paraplegia v1.219 SPG29 Arina Puzriakova Tag curated_removed tag was added to gene: SPG29.
Hereditary spastic paraplegia v1.219 SPG27 Arina Puzriakova Tag curated_removed tag was added to gene: SPG27.
Hereditary spastic paraplegia v1.219 SPG25 Arina Puzriakova Tag curated_removed tag was added to gene: SPG25.
Hereditary spastic paraplegia v1.219 SPG24 Arina Puzriakova Tag curated_removed tag was added to gene: SPG24.
Hereditary spastic paraplegia v1.219 SPG23 Arina Puzriakova Tag curated_removed tag was added to gene: SPG23.
Hereditary spastic paraplegia v1.219 SPG19 Arina Puzriakova Tag curated_removed tag was added to gene: SPG19.
Hereditary spastic paraplegia v1.219 SPG16 Arina Puzriakova Tag curated_removed tag was added to gene: SPG16.
Hereditary spastic paraplegia v1.219 SPG14 Arina Puzriakova Tag curated_removed tag was added to gene: SPG14.
Familial Neural Tube Defects v1.10 HPE1 Arina Puzriakova Tag curated_removed tag was added to gene: HPE1.
Familial diabetes v1.59 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Familial cicatricial alopecia v1.2 GJA1 Arina Puzriakova Tag curated_removed tag was added to gene: GJA1.
Familial cicatricial alopecia v1.2 FOXN1 Arina Puzriakova Tag curated_removed tag was added to gene: FOXN1.
Ductal plate malformation v1.16 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Ductal plate malformation v1.16 WDR34 Arina Puzriakova Tag curated_removed tag was added to gene: WDR34.
Ductal plate malformation v1.16 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Ductal plate malformation v1.16 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Ductal plate malformation v1.16 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Ductal plate malformation v1.16 TTC21B Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B.
Ductal plate malformation v1.16 TMEM237 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237.
Ductal plate malformation v1.16 TMEM231 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231.
Ductal plate malformation v1.16 TMEM216 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM216.
Ductal plate malformation v1.16 TMEM138 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM138.
Ductal plate malformation v1.16 TMEM107 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM107.
Ductal plate malformation v1.16 TCTN3 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3.
Ductal plate malformation v1.16 TCTN2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2.
Ductal plate malformation v1.16 TCTN1 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN1.
Ductal plate malformation v1.16 TCTEX1D2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTEX1D2.
Ductal plate malformation v1.16 SDCCAG8 Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8.
Ductal plate malformation v1.16 OFD1 Arina Puzriakova Tag curated_removed tag was added to gene: OFD1.
Ductal plate malformation v1.16 NPHP4 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP4.
Ductal plate malformation v1.16 NPHP3 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP3.
Ductal plate malformation v1.16 NPHP1 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP1.
Ductal plate malformation v1.16 NEK8 Arina Puzriakova Tag curated_removed tag was added to gene: NEK8.
Ductal plate malformation v1.16 NEK1 Arina Puzriakova Tag curated_removed tag was added to gene: NEK1.
Ductal plate malformation v1.16 MKS1 Arina Puzriakova Tag curated_removed tag was added to gene: MKS1.
Ductal plate malformation v1.16 MKKS Arina Puzriakova Tag curated_removed tag was added to gene: MKKS.
Ductal plate malformation v1.16 MAPKBP1 Arina Puzriakova Tag curated_removed tag was added to gene: MAPKBP1.
Ductal plate malformation v1.16 KIF7 Arina Puzriakova Tag curated_removed tag was added to gene: KIF7.
Ductal plate malformation v1.16 KIAA0586 Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586.
Ductal plate malformation v1.16 IQCB1 Arina Puzriakova Tag curated_removed tag was added to gene: IQCB1.
Ductal plate malformation v1.16 INVS Arina Puzriakova Tag curated_removed tag was added to gene: INVS.
Ductal plate malformation v1.16 INPP5E Arina Puzriakova Tag curated_removed tag was added to gene: INPP5E.
Ductal plate malformation v1.16 IFT80 Arina Puzriakova Tag curated_removed tag was added to gene: IFT80.
Ductal plate malformation v1.16 IFT52 Arina Puzriakova Tag curated_removed tag was added to gene: IFT52.
Ductal plate malformation v1.16 IFT172 Arina Puzriakova Tag curated_removed tag was added to gene: IFT172.
Ductal plate malformation v1.16 IFT140 Arina Puzriakova Tag curated_removed tag was added to gene: IFT140.
Ductal plate malformation v1.16 IFT122 Arina Puzriakova Tag curated_removed tag was added to gene: IFT122.
Ductal plate malformation v1.16 HYLS1 Arina Puzriakova Tag curated_removed tag was added to gene: HYLS1.
Ductal plate malformation v1.16 HNF1B Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B.
Ductal plate malformation v1.16 EVC2 Arina Puzriakova Tag curated_removed tag was added to gene: EVC2.
Ductal plate malformation v1.16 EVC Arina Puzriakova Tag curated_removed tag was added to gene: EVC.
Ductal plate malformation v1.16 DYNC2LI1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2LI1.
Ductal plate malformation v1.16 DYNC2H1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1.
Ductal plate malformation v1.16 DDX59 Arina Puzriakova Tag curated_removed tag was added to gene: DDX59.
Ductal plate malformation v1.16 CSPP1 Arina Puzriakova Tag curated_removed tag was added to gene: CSPP1.
Ductal plate malformation v1.16 CEP83 Arina Puzriakova Tag curated_removed tag was added to gene: CEP83.
Ductal plate malformation v1.16 CEP41 Arina Puzriakova Tag curated_removed tag was added to gene: CEP41.
Ductal plate malformation v1.16 CEP290 Arina Puzriakova Tag curated_removed tag was added to gene: CEP290.
Ductal plate malformation v1.16 CEP164 Arina Puzriakova Tag curated_removed tag was added to gene: CEP164.
Ductal plate malformation v1.16 CEP120 Arina Puzriakova Tag curated_removed tag was added to gene: CEP120.
Ductal plate malformation v1.16 CEP104 Arina Puzriakova Tag curated_removed tag was added to gene: CEP104.
Ductal plate malformation v1.16 C5orf42 Arina Puzriakova Tag curated_removed tag was added to gene: C5orf42.
Ductal plate malformation v1.16 C2CD3 Arina Puzriakova Tag curated_removed tag was added to gene: C2CD3.
Ductal plate malformation v1.16 BBS9 Arina Puzriakova Tag curated_removed tag was added to gene: BBS9.
Ductal plate malformation v1.16 BBS7 Arina Puzriakova Tag curated_removed tag was added to gene: BBS7.
Ductal plate malformation v1.16 BBS5 Arina Puzriakova Tag curated_removed tag was added to gene: BBS5.
Ductal plate malformation v1.16 BBS4 Arina Puzriakova Tag curated_removed tag was added to gene: BBS4.
Ductal plate malformation v1.16 BBS2 Arina Puzriakova Tag curated_removed tag was added to gene: BBS2.
Ductal plate malformation v1.16 BBS12 Arina Puzriakova Tag curated_removed tag was added to gene: BBS12.
Ductal plate malformation v1.16 BBS10 Arina Puzriakova Tag curated_removed tag was added to gene: BBS10.
Ductal plate malformation v1.16 BBS1 Arina Puzriakova Tag curated_removed tag was added to gene: BBS1.
Ductal plate malformation v1.16 B9D2 Arina Puzriakova Tag curated_removed tag was added to gene: B9D2.
Ductal plate malformation v1.16 ARL6 Arina Puzriakova Tag curated_removed tag was added to gene: ARL6.
Ductal plate malformation v1.16 ARL13B Arina Puzriakova Tag curated_removed tag was added to gene: ARL13B.
Ductal plate malformation v1.16 ANKS6 Arina Puzriakova Tag curated_removed tag was added to gene: ANKS6.
Ductal plate malformation v1.16 ALMS1 Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1.
Ductal plate malformation v1.16 AHI1 Arina Puzriakova Tag curated_removed tag was added to gene: AHI1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 UGT1A1 Arina Puzriakova Tag curated_removed tag was added to gene: UGT1A1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 SPINK1 Arina Puzriakova Tag curated_removed tag was added to gene: SPINK1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 IL1RN Arina Puzriakova Tag curated_removed tag was added to gene: IL1RN.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AVPR2 Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AVP Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AQP2 Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 ACE Arina Puzriakova Tag curated_removed tag was added to gene: ACE.
Deafness and congenital structural abnormalities v1.17 DWS Arina Puzriakova Tag curated_removed tag was added to gene: DWS.
Childhood solid tumours cancer susceptibility v1.14 SH2B3 Arina Puzriakova Tag curated_removed tag was added to gene: SH2B3.
Additional findings health related v0.110 CFTR Arina Puzriakova Tag curated_removed tag was added to gene: CFTR.
Vascular skin disorders v1.4 GNAQ Arina Puzriakova Tag curated_removed tag was added to gene: GNAQ.
Vascular skin disorders v1.4 GNA11 Arina Puzriakova Tag curated_removed tag was added to gene: GNA11.
Structural eye disease v1.47 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Skeletal dysplasia v2.83 ZIC1 Arina Puzriakova Tag curated_removed tag was added to gene: ZIC1.
Skeletal dysplasia v2.83 TWIST2 Arina Puzriakova Tag curated_removed tag was added to gene: TWIST2.
Skeletal dysplasia v2.83 TGFBR1 Arina Puzriakova Tag curated_removed tag was added to gene: TGFBR1.
Skeletal dysplasia v2.83 TCF12 Arina Puzriakova Tag curated_removed tag was added to gene: TCF12.
Skeletal dysplasia v2.83 KAT6A Arina Puzriakova Tag curated_removed tag was added to gene: KAT6A.
Skeletal dysplasia v2.83 IGF1R Arina Puzriakova Tag curated_removed tag was added to gene: IGF1R.
Skeletal dysplasia v2.83 EFNB1 Arina Puzriakova Tag curated_removed tag was added to gene: EFNB1.
Skeletal ciliopathies v1.10 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Skeletal ciliopathies v1.10 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Skeletal ciliopathies v1.10 TRIM32 Arina Puzriakova Tag curated_removed tag was added to gene: TRIM32.
Skeletal ciliopathies v1.10 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Skeletal ciliopathies v1.10 SDCCAG8 Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8.
Skeletal ciliopathies v1.10 SCLT1 Arina Puzriakova Tag curated_removed tag was added to gene: SCLT1.
Skeletal ciliopathies v1.10 MKS1 Arina Puzriakova Tag curated_removed tag was added to gene: MKS1.
Skeletal ciliopathies v1.10 MKKS Arina Puzriakova Tag curated_removed tag was added to gene: MKKS.
Skeletal ciliopathies v1.10 LZTFL1 Arina Puzriakova Tag curated_removed tag was added to gene: LZTFL1.
Skeletal ciliopathies v1.10 IFT74 Arina Puzriakova Tag curated_removed tag was added to gene: IFT74.
Skeletal ciliopathies v1.10 IFT27 Arina Puzriakova Tag curated_removed tag was added to gene: IFT27.
Skeletal ciliopathies v1.10 DDX59 Arina Puzriakova Tag curated_removed tag was added to gene: DDX59.
Skeletal ciliopathies v1.10 CENPF Arina Puzriakova Tag curated_removed tag was added to gene: CENPF.
Skeletal ciliopathies v1.10 CCDC28B Arina Puzriakova Tag curated_removed tag was added to gene: CCDC28B.
Skeletal ciliopathies v1.10 C8orf37 Arina Puzriakova Tag curated_removed tag was added to gene: C8orf37.
Skeletal ciliopathies v1.10 BBS9 Arina Puzriakova Tag curated_removed tag was added to gene: BBS9.
Skeletal ciliopathies v1.10 BBS7 Arina Puzriakova Tag curated_removed tag was added to gene: BBS7.
Skeletal ciliopathies v1.10 BBS5 Arina Puzriakova Tag curated_removed tag was added to gene: BBS5.
Skeletal ciliopathies v1.10 BBS4 Arina Puzriakova Tag curated_removed tag was added to gene: BBS4.
Skeletal ciliopathies v1.10 BBS2 Arina Puzriakova Tag curated_removed tag was added to gene: BBS2.
Skeletal ciliopathies v1.10 BBS12 Arina Puzriakova Tag curated_removed tag was added to gene: BBS12.
Skeletal ciliopathies v1.10 BBS10 Arina Puzriakova Tag curated_removed tag was added to gene: BBS10.
Skeletal ciliopathies v1.10 BBS1 Arina Puzriakova Tag curated_removed tag was added to gene: BBS1.
Skeletal ciliopathies v1.10 BBIP1 Arina Puzriakova Tag curated_removed tag was added to gene: BBIP1.
Skeletal ciliopathies v1.10 ARL6 Arina Puzriakova Tag curated_removed tag was added to gene: ARL6.
Retinal disorders v2.172 EVR3 Arina Puzriakova Tag curated_removed tag was added to gene: EVR3.
Osteogenesis imperfecta v2.13 WRN Arina Puzriakova Tag curated_removed tag was added to gene: WRN.
Osteogenesis imperfecta v2.13 WNT5A Arina Puzriakova Tag curated_removed tag was added to gene: WNT5A.
Osteogenesis imperfecta v2.13 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Osteogenesis imperfecta v2.13 TRPV4 Arina Puzriakova Tag curated_removed tag was added to gene: TRPV4.
Osteogenesis imperfecta v2.13 TRPS1 Arina Puzriakova Tag curated_removed tag was added to gene: TRPS1.
Osteogenesis imperfecta v2.13 TRIP11 Arina Puzriakova Tag curated_removed tag was added to gene: TRIP11.
Osteogenesis imperfecta v2.13 TRIM37 Arina Puzriakova Tag curated_removed tag was added to gene: TRIM37.
Osteogenesis imperfecta v2.13 THRB Arina Puzriakova Tag curated_removed tag was added to gene: THRB.
Osteogenesis imperfecta v2.13 TCTN3 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3.
Osteogenesis imperfecta v2.13 TBCE Arina Puzriakova Tag curated_removed tag was added to gene: TBCE.
Osteogenesis imperfecta v2.13 SULF1 Arina Puzriakova Tag curated_removed tag was added to gene: SULF1.
Osteogenesis imperfecta v2.13 STAT5B Arina Puzriakova Tag curated_removed tag was added to gene: STAT5B.
Osteogenesis imperfecta v2.13 SRCAP Arina Puzriakova Tag curated_removed tag was added to gene: SRCAP.
Osteogenesis imperfecta v2.13 SOX9 Arina Puzriakova Tag curated_removed tag was added to gene: SOX9.
Osteogenesis imperfecta v2.13 SOX3 Arina Puzriakova Tag curated_removed tag was added to gene: SOX3.
Osteogenesis imperfecta v2.13 SOX2 Arina Puzriakova Tag curated_removed tag was added to gene: SOX2.
Osteogenesis imperfecta v2.13 SOS1 Arina Puzriakova Tag curated_removed tag was added to gene: SOS1.
Osteogenesis imperfecta v2.13 SMC3 Arina Puzriakova Tag curated_removed tag was added to gene: SMC3.
Osteogenesis imperfecta v2.13 SMC1A Arina Puzriakova Tag curated_removed tag was added to gene: SMC1A.
Osteogenesis imperfecta v2.13 SMARCAL1 Arina Puzriakova Tag curated_removed tag was added to gene: SMARCAL1.
Osteogenesis imperfecta v2.13 SLC39A13 Arina Puzriakova Tag curated_removed tag was added to gene: SLC39A13.
Osteogenesis imperfecta v2.13 SLC35D1 Arina Puzriakova Tag curated_removed tag was added to gene: SLC35D1.
Osteogenesis imperfecta v2.13 SLC26A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC26A2.
Osteogenesis imperfecta v2.13 SHOX2 Arina Puzriakova Tag curated_removed tag was added to gene: SHOX2.
Osteogenesis imperfecta v2.13 SH3PXD2B Arina Puzriakova Tag curated_removed tag was added to gene: SH3PXD2B.
Osteogenesis imperfecta v2.13 RUNX2 Arina Puzriakova Tag curated_removed tag was added to gene: RUNX2.
Osteogenesis imperfecta v2.13 RPS6KA3 Arina Puzriakova Tag curated_removed tag was added to gene: RPS6KA3.
Osteogenesis imperfecta v2.13 ROR2 Arina Puzriakova Tag curated_removed tag was added to gene: ROR2.
Osteogenesis imperfecta v2.13 RAF1 Arina Puzriakova Tag curated_removed tag was added to gene: RAF1.
Osteogenesis imperfecta v2.13 PTPN11 Arina Puzriakova Tag curated_removed tag was added to gene: PTPN11.
Osteogenesis imperfecta v2.13 PTH1R Arina Puzriakova Tag curated_removed tag was added to gene: PTH1R.
Osteogenesis imperfecta v2.13 PROP1 Arina Puzriakova Tag curated_removed tag was added to gene: PROP1.
Osteogenesis imperfecta v2.13 PRKAR1A Arina Puzriakova Tag curated_removed tag was added to gene: PRKAR1A.
Osteogenesis imperfecta v2.13 POU1F1 Arina Puzriakova Tag curated_removed tag was added to gene: POU1F1.
Osteogenesis imperfecta v2.13 PITX2 Arina Puzriakova Tag curated_removed tag was added to gene: PITX2.
Osteogenesis imperfecta v2.13 PCNT Arina Puzriakova Tag curated_removed tag was added to gene: PCNT.
Osteogenesis imperfecta v2.13 PAPSS2 Arina Puzriakova Tag curated_removed tag was added to gene: PAPSS2.
Osteogenesis imperfecta v2.13 OBSL1 Arina Puzriakova Tag curated_removed tag was added to gene: OBSL1.
Osteogenesis imperfecta v2.13 NPR2 Arina Puzriakova Tag curated_removed tag was added to gene: NPR2.
Osteogenesis imperfecta v2.13 NKX3-2 Arina Puzriakova Tag curated_removed tag was added to gene: NKX3-2.
Osteogenesis imperfecta v2.13 NIPBL Arina Puzriakova Tag curated_removed tag was added to gene: NIPBL.
Osteogenesis imperfecta v2.13 NEK1 Arina Puzriakova Tag curated_removed tag was added to gene: NEK1.
Osteogenesis imperfecta v2.13 NBN Arina Puzriakova Tag curated_removed tag was added to gene: NBN.
Osteogenesis imperfecta v2.13 MMP9 Arina Puzriakova Tag curated_removed tag was added to gene: MMP9.
Osteogenesis imperfecta v2.13 MMP13 Arina Puzriakova Tag curated_removed tag was added to gene: MMP13.
Osteogenesis imperfecta v2.13 LIFR Arina Puzriakova Tag curated_removed tag was added to gene: LIFR.
Osteogenesis imperfecta v2.13 LHX3 Arina Puzriakova Tag curated_removed tag was added to gene: LHX3.
Osteogenesis imperfecta v2.13 KRAS Arina Puzriakova Tag curated_removed tag was added to gene: KRAS.
Osteogenesis imperfecta v2.13 KMT2D Arina Puzriakova Tag curated_removed tag was added to gene: KMT2D.
Osteogenesis imperfecta v2.13 KIF22 Arina Puzriakova Tag curated_removed tag was added to gene: KIF22.
Osteogenesis imperfecta v2.13 KDM6A Arina Puzriakova Tag curated_removed tag was added to gene: KDM6A.
Osteogenesis imperfecta v2.13 INSR Arina Puzriakova Tag curated_removed tag was added to gene: INSR.
Osteogenesis imperfecta v2.13 IHH Arina Puzriakova Tag curated_removed tag was added to gene: IHH.
Osteogenesis imperfecta v2.13 IGF1R Arina Puzriakova Tag curated_removed tag was added to gene: IGF1R.
Osteogenesis imperfecta v2.13 IGF1 Arina Puzriakova Tag curated_removed tag was added to gene: IGF1.
Osteogenesis imperfecta v2.13 IFT80 Arina Puzriakova Tag curated_removed tag was added to gene: IFT80.
Osteogenesis imperfecta v2.13 IFT140 Arina Puzriakova Tag curated_removed tag was added to gene: IFT140.
Osteogenesis imperfecta v2.13 IFT122 Arina Puzriakova Tag curated_removed tag was added to gene: IFT122.
Osteogenesis imperfecta v2.13 ICK Arina Puzriakova Tag curated_removed tag was added to gene: ICK.
Osteogenesis imperfecta v2.13 HSPG2 Arina Puzriakova Tag curated_removed tag was added to gene: HSPG2.
Osteogenesis imperfecta v2.13 HESX1 Arina Puzriakova Tag curated_removed tag was added to gene: HESX1.
Osteogenesis imperfecta v2.13 GPC6 Arina Puzriakova Tag curated_removed tag was added to gene: GPC6.
Osteogenesis imperfecta v2.13 GLI3 Arina Puzriakova Tag curated_removed tag was added to gene: GLI3.
Osteogenesis imperfecta v2.13 GLI2 Arina Puzriakova Tag curated_removed tag was added to gene: GLI2.
Osteogenesis imperfecta v2.13 GHSR Arina Puzriakova Tag curated_removed tag was added to gene: GHSR.
Osteogenesis imperfecta v2.13 GHRHR Arina Puzriakova Tag curated_removed tag was added to gene: GHRHR.
Osteogenesis imperfecta v2.13 GH1 Arina Puzriakova Tag curated_removed tag was added to gene: GH1.
Osteogenesis imperfecta v2.13 GDF5 Arina Puzriakova Tag curated_removed tag was added to gene: GDF5.
Osteogenesis imperfecta v2.13 FLNB Arina Puzriakova Tag curated_removed tag was added to gene: FLNB.
Osteogenesis imperfecta v2.13 FLNA Arina Puzriakova Tag curated_removed tag was added to gene: FLNA.
Osteogenesis imperfecta v2.13 FGFR3 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3.
Osteogenesis imperfecta v2.13 FGFR2 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR2.
Osteogenesis imperfecta v2.13 FGFR1 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR1.
Osteogenesis imperfecta v2.13 FGD1 Arina Puzriakova Tag curated_removed tag was added to gene: FGD1.
Osteogenesis imperfecta v2.13 FBN1 Arina Puzriakova Tag curated_removed tag was added to gene: FBN1.
Osteogenesis imperfecta v2.13 FAM20C Arina Puzriakova Tag curated_removed tag was added to gene: FAM20C.
Osteogenesis imperfecta v2.13 EXT2 Arina Puzriakova Tag curated_removed tag was added to gene: EXT2.
Osteogenesis imperfecta v2.13 EXT1 Arina Puzriakova Tag curated_removed tag was added to gene: EXT1.
Osteogenesis imperfecta v2.13 EVC2 Arina Puzriakova Tag curated_removed tag was added to gene: EVC2.
Osteogenesis imperfecta v2.13 EVC Arina Puzriakova Tag curated_removed tag was added to gene: EVC.
Osteogenesis imperfecta v2.13 ERCC8 Arina Puzriakova Tag curated_removed tag was added to gene: ERCC8.
Osteogenesis imperfecta v2.13 ERCC6 Arina Puzriakova Tag curated_removed tag was added to gene: ERCC6.
Osteogenesis imperfecta v2.13 EP300 Arina Puzriakova Tag curated_removed tag was added to gene: EP300.
Osteogenesis imperfecta v2.13 EIF2AK3 Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3.
Osteogenesis imperfecta v2.13 DYNC2H1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1.
Osteogenesis imperfecta v2.13 DYM Arina Puzriakova Tag curated_removed tag was added to gene: DYM.
Osteogenesis imperfecta v2.13 DHCR7 Arina Puzriakova Tag curated_removed tag was added to gene: DHCR7.
Osteogenesis imperfecta v2.13 DHCR24 Arina Puzriakova Tag curated_removed tag was added to gene: DHCR24.
Osteogenesis imperfecta v2.13 DDR2 Arina Puzriakova Tag curated_removed tag was added to gene: DDR2.
Osteogenesis imperfecta v2.13 CUL7 Arina Puzriakova Tag curated_removed tag was added to gene: CUL7.
Osteogenesis imperfecta v2.13 CTSK Arina Puzriakova Tag curated_removed tag was added to gene: CTSK.
Osteogenesis imperfecta v2.13 COMP Arina Puzriakova Tag curated_removed tag was added to gene: COMP.
Osteogenesis imperfecta v2.13 COL9A3 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A3.
Osteogenesis imperfecta v2.13 COL9A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A2.
Osteogenesis imperfecta v2.13 COL9A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A1.
Osteogenesis imperfecta v2.13 CHST3 Arina Puzriakova Tag curated_removed tag was added to gene: CHST3.
Osteogenesis imperfecta v2.13 CHST14 Arina Puzriakova Tag curated_removed tag was added to gene: CHST14.
Osteogenesis imperfecta v2.13 CDKN1C Arina Puzriakova Tag curated_removed tag was added to gene: CDKN1C.
Osteogenesis imperfecta v2.13 CANT1 Arina Puzriakova Tag curated_removed tag was added to gene: CANT1.
Osteogenesis imperfecta v2.13 BTK Arina Puzriakova Tag curated_removed tag was added to gene: BTK.
Osteogenesis imperfecta v2.13 BMPR1B Arina Puzriakova Tag curated_removed tag was added to gene: BMPR1B.
Osteogenesis imperfecta v2.13 BLM Arina Puzriakova Tag curated_removed tag was added to gene: BLM.
Osteogenesis imperfecta v2.13 ATRX Arina Puzriakova Tag curated_removed tag was added to gene: ATRX.
Osteogenesis imperfecta v2.13 ACP5 Arina Puzriakova Tag curated_removed tag was added to gene: ACP5.
Mosaic skin disorders - deep sequencing v1.5 JAK2 Arina Puzriakova Tag removed was removed from gene: JAK2.
Tag curated_removed tag was added to gene: JAK2.
Optic neuropathy v2.35 OPA8 Arina Puzriakova Tag curated_removed tag was added to gene: OPA8.
Optic neuropathy v2.35 OPA6 Arina Puzriakova Tag curated_removed tag was added to gene: OPA6.
Optic neuropathy v2.35 OPA5 Arina Puzriakova Tag curated_removed tag was added to gene: OPA5.
Optic neuropathy v2.35 OPA4 Arina Puzriakova Tag curated_removed tag was added to gene: OPA4.
Optic neuropathy v2.35 OPA2 Arina Puzriakova Tag curated_removed tag was added to gene: OPA2.
Multiple monogenic benign skin tumours v1.5 VDR Arina Puzriakova Tag curated_removed tag was added to gene: VDR.
Multiple monogenic benign skin tumours v1.5 TSC2 Arina Puzriakova Tag curated_removed tag was added to gene: TSC2.
Multiple monogenic benign skin tumours v1.5 TSC1 Arina Puzriakova Tag curated_removed tag was added to gene: TSC1.
Multiple monogenic benign skin tumours v1.5 TMC8 Arina Puzriakova Tag curated_removed tag was added to gene: TMC8.
Multiple monogenic benign skin tumours v1.5 TMC6 Arina Puzriakova Tag curated_removed tag was added to gene: TMC6.
Multiple monogenic benign skin tumours v1.5 SUFU Arina Puzriakova Tag curated_removed tag was added to gene: SUFU.
Multiple monogenic benign skin tumours v1.5 STK11 Arina Puzriakova Tag curated_removed tag was added to gene: STK11.
Multiple monogenic benign skin tumours v1.5 SASH1 Arina Puzriakova Tag curated_removed tag was added to gene: SASH1.
Multiple monogenic benign skin tumours v1.5 SAMD9 Arina Puzriakova Tag curated_removed tag was added to gene: SAMD9.
Multiple monogenic benign skin tumours v1.5 PTEN Arina Puzriakova Tag curated_removed tag was added to gene: PTEN.
Multiple monogenic benign skin tumours v1.5 PTCH2 Arina Puzriakova Tag curated_removed tag was added to gene: PTCH2.
Multiple monogenic benign skin tumours v1.5 PTCH1 Arina Puzriakova Tag curated_removed tag was added to gene: PTCH1.
Multiple monogenic benign skin tumours v1.5 PRKAR1A Arina Puzriakova Tag curated_removed tag was added to gene: PRKAR1A.
Multiple monogenic benign skin tumours v1.5 PORCN Arina Puzriakova Tag curated_removed tag was added to gene: PORCN.
Multiple monogenic benign skin tumours v1.5 PIK3CA Arina Puzriakova Tag curated_removed tag was added to gene: PIK3CA.
Multiple monogenic benign skin tumours v1.5 PDGFRB Arina Puzriakova Tag curated_removed tag was added to gene: PDGFRB.
Multiple monogenic benign skin tumours v1.5 NRAS Arina Puzriakova Tag curated_removed tag was added to gene: NRAS.
Multiple monogenic benign skin tumours v1.5 NF1 Arina Puzriakova Tag curated_removed tag was added to gene: NF1.
Multiple monogenic benign skin tumours v1.5 MC1R Arina Puzriakova Tag curated_removed tag was added to gene: MC1R.
Multiple monogenic benign skin tumours v1.5 LEF1 Arina Puzriakova Tag curated_removed tag was added to gene: LEF1.
Multiple monogenic benign skin tumours v1.5 KRT17 Arina Puzriakova Tag curated_removed tag was added to gene: KRT17.
Multiple monogenic benign skin tumours v1.5 KRAS Arina Puzriakova Tag curated_removed tag was added to gene: KRAS.
Multiple monogenic benign skin tumours v1.5 JAK2 Arina Puzriakova Tag curate was removed from gene: JAK2.
Tag curated_removed tag was added to gene: JAK2.
Multiple monogenic benign skin tumours v1.5 JAK2 Arina Puzriakova Tag curate tag was added to gene: JAK2.
Multiple monogenic benign skin tumours v1.5 IRF4 Arina Puzriakova Tag curated_removed tag was added to gene: IRF4.
Multiple monogenic benign skin tumours v1.5 HRAS Arina Puzriakova Tag curated_removed tag was added to gene: HRAS.
Multiple monogenic benign skin tumours v1.5 GLA Arina Puzriakova Tag curated_removed tag was added to gene: GLA.
Multiple monogenic benign skin tumours v1.5 GALNT3 Arina Puzriakova Tag curated_removed tag was added to gene: GALNT3.
Multiple monogenic benign skin tumours v1.5 FGFR3 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3.
Multiple monogenic benign skin tumours v1.5 FGFR2 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR2.
Multiple monogenic benign skin tumours v1.5 FGF23 Arina Puzriakova Tag curated_removed tag was added to gene: FGF23.
Multiple monogenic benign skin tumours v1.5 CTNNB1 Arina Puzriakova Tag curated_removed tag was added to gene: CTNNB1.
Multiple monogenic benign skin tumours v1.5 CIB1 Arina Puzriakova Tag curated_removed tag was added to gene: CIB1.
Multiple monogenic benign skin tumours v1.5 CDKN2A Arina Puzriakova Tag curated_removed tag was added to gene: CDKN2A.
Multiple monogenic benign skin tumours v1.5 CDK4 Arina Puzriakova Tag curated_removed tag was added to gene: CDK4.
Multiple monogenic benign skin tumours v1.5 BRAF Arina Puzriakova Tag curated_removed tag was added to gene: BRAF.
Multiple monogenic benign skin tumours v1.5 APC Arina Puzriakova Tag curated_removed tag was added to gene: APC.
Multiple monogenic benign skin tumours v1.5 ACTRT1 Arina Puzriakova Tag curated_removed tag was added to gene: ACTRT1.
Mosaic skin disorders - deep sequencing v1.5 TYRP1 Arina Puzriakova Tag curated_removed tag was added to gene: TYRP1.