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Undiagnosed metabolic disorders v1.601 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Optic neuropathy v4.11 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Structural basal ganglia disorders v1.38 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Sudden death in young people v1.15 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Leber hereditary optic neuropathy v2.6 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Severe Paediatric Disorders v1.174 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Mitochondrial disorders v4.99 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Undiagnosed metabolic disorders v1.601 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Albinism or congenital nystagmus v3.1 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Sudden death in young people v1.15 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Infantile nystagmus v1.10 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Severe Paediatric Disorders v1.174 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Mitochondrial disorders v4.99 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Early onset or syndromic epilepsy v4.120 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Undiagnosed metabolic disorders v1.601 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Albinism or congenital nystagmus v3.1 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Infantile nystagmus v1.10 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Acute rhabdomyolysis v1.16 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Severe Paediatric Disorders v1.174 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Mitochondrial disorders v4.99 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 CD8A Hannah Knight changed review comment from: PMID: 26563160 reported a third patient with this disorder. From consanguineous Portuguese family, with same homozygous variant as previously reported. Not sure whether this is enough to push gene into green category (as same variant, and Portuguese vs Spanish Gypsy heritage); to: PMID: 26563160 reported a third patient with this disorder. From consanguineous Portuguese family, with same homozygous variant as previously reported. Not sure whether this is enough to push gene into green category (as same variant, and Portuguese vs Spanish Gypsy heritage)
PMID mentioned below, but not sure if taken into account as no reference to contents of paper
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Undiagnosed metabolic disorders v1.601 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 CD8A Hannah Knight reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26563160; Phenotypes: CD8 deficiency familial, 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Acute rhabdomyolysis v1.16 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Severe Paediatric Disorders v1.174 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Mitochondrial disorders v4.99 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Undiagnosed metabolic disorders v1.601 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Albinism or congenital nystagmus v3.1 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Infantile nystagmus v1.10 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Severe Paediatric Disorders v1.174 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Mitochondrial disorders v4.99 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Undiagnosed metabolic disorders v1.601 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Skeletal muscle channelopathy v3.1 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Paroxysmal central nervous system disorders v3.8 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Skeletal Muscle Channelopathies v1.45 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
NARP syndrome or maternally inherited Leigh syndrome v1.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Severe Paediatric Disorders v1.174 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Hereditary neuropathy or pain disorder v3.60 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Adult onset dystonia, chorea or related movement disorder v3.13 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Retinal disorders v4.36 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Hereditary ataxia with onset in adulthood v4.24 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Mitochondrial disorders v4.99 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Intellectual disability v5.315 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Hereditary neuropathy v1.472 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Undiagnosed metabolic disorders v1.601 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Adult onset neurodegenerative disorder v4.37 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Skeletal muscle channelopathy v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Optic neuropathy v4.11 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Paroxysmal central nervous system disorders v3.8 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Structural basal ganglia disorders v1.38 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Albinism or congenital nystagmus v3.1 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Hereditary ataxia v1.331 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Ataxia and cerebellar anomalies - narrow panel v4.38 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Skeletal Muscle Channelopathies v1.45 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Infantile nystagmus v1.10 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Structural eye disease v3.30 CDH4 Sarah Leigh Publications for gene: CDH4 were set to 35034853
Structural eye disease v3.29 CDH4 Sarah Leigh reviewed gene: CDH4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v5.315 ERI1 Achchuthan Shanmugasundram Classified gene: ERI1 as Amber List (moderate evidence)
Intellectual disability v5.315 ERI1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases with biallelic null ERI1 variants and mild intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
Intellectual disability v5.315 ERI1 Achchuthan Shanmugasundram Gene: eri1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.314 ERI1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ERI1.
Intellectual disability v5.314 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860
Phenotypes for gene: ERI1 were set to intellectual disability, MONDO:0001071
Review for gene: ERI1 was set to GREEN
Added comment: PMID:36208065 reported a female patient with a homozygous nonsense variant in ERI1 gene and with mild intellectual disability (ID), eyelid ptosis, and anomalies in her hands and feet (brachydactyly, clinodactyly, dysplastic/short nail of halluces, brachytelephalangy, short metacarpals, and toe syndactyly).

PMID:37352860 reported eight patients from seven unrelated families with compound heterozygous variants in ERI1 gene, of which four patients had missense variants, three had null variants and one had missense and PTC variants. The patients with missense variants had a more severe severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly. The patients with null variants had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly. The patient with both missense and PTC variants had phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, and delayed motor milestones and speech and generalised hypotonia.

This gene has not yet been reported with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Structural eye disease v3.29 CDH4 Sarah Leigh Classified gene: CDH4 as Amber List (moderate evidence)
Structural eye disease v3.29 CDH4 Sarah Leigh Gene: cdh4 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.28 BMPR1B Sarah Leigh Tag Q4_23_promote_green tag was added to gene: BMPR1B.
Tag Q4_23_NHS_review tag was added to gene: BMPR1B.
Structural eye disease v3.28 BMPR1B Sarah Leigh Classified gene: BMPR1B as Amber List (moderate evidence)
Structural eye disease v3.28 BMPR1B Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.28 BMPR1B Sarah Leigh Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.27 BMPR1B Sarah Leigh Added comment: Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:609441, OMIM:616849 or OMIM:112600.
Structural eye disease v3.27 BMPR1B Sarah Leigh Phenotypes for gene: BMPR1B were changed from Ocular coloboma to Ocular coloboma
Structural eye disease v3.26 BMPR1B Sarah Leigh commented on gene: BMPR1B
Skeletal dysplasia v4.25 ERI1 Achchuthan Shanmugasundram Classified gene: ERI1 as Amber List (moderate evidence)
Skeletal dysplasia v4.25 ERI1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for promotion of this gene to green rating in the next GMS review.
Skeletal dysplasia v4.25 ERI1 Achchuthan Shanmugasundram Gene: eri1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v4.24 ERI1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: ERI1.
Skeletal dysplasia v4.24 ERI1 Achchuthan Shanmugasundram changed review comment from: As reviewed by Tracy Lester, four patients from three different families were identified with compound heterozygous missense variants in ERI1 gene and were reported with spondyloepimetaphyseal dysplasia. In addition, another unrelated patient with a missense and a null variant was reported with spondyloepimetaphyseal dysplasia, and delayed motor milestones and speech and generalised hypotonia.; to: As reviewed by Tracy Lester, four patients from three different families were identified with compound heterozygous missense variants in ERI1 gene and were reported with spondyloepimetaphyseal dysplasia. In addition, another unrelated patient with a missense and a null variant was reported with spondyloepimetaphyseal dysplasia, and delayed motor milestones and speech and generalised hypotonia (PMID:37352860).


This gene has not yet been associated with relevantly phenotypes either in OMIM or in Gene2Phenotype.
Skeletal dysplasia v4.24 ERI1 Achchuthan Shanmugasundram commented on gene: ERI1: As reviewed by Tracy Lester, four patients from three different families were identified with compound heterozygous missense variants in ERI1 gene and were reported with spondyloepimetaphyseal dysplasia. In addition, another unrelated patient with a missense and a null variant was reported with spondyloepimetaphyseal dysplasia, and delayed motor milestones and speech and generalised hypotonia.
Skeletal dysplasia v4.24 ERI1 Achchuthan Shanmugasundram Phenotypes for gene: ERI1 were changed from spondyloepimetaphyseal dysplasia; digital anomalies to spondyloepimetaphyseal dysplasia, MONDO:0100510
Skeletal dysplasia v4.23 ERI1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ERI1.
Skeletal dysplasia v4.23 ERI1 Achchuthan Shanmugasundram reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37352860; Phenotypes: spondyloepimetaphyseal dysplasia, MONDO:0100510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v3.26 ANK3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ANK3.
Tag Q4_23_NHS_review tag was added to gene: ANK3.
Severe microcephaly v4.37 BUB1 Eleanor Williams commented on gene: BUB1
Structural eye disease v3.26 ANK3 Sarah Leigh Classified gene: ANK3 as Amber List (moderate evidence)
Structural eye disease v3.26 ANK3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.26 ANK3 Sarah Leigh Gene: ank3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v3.25 ANK3 Sarah Leigh edited their review of gene: ANK3: Added comment: ANK3 variants have been associated with Intellectual developmental disorder, autosomal recessive 37 (OMIM:615493), however, this phenotype does not include Ocular coloboma to date. PMID: 35034853 reports two monoallelic ANK3 variants in two cases whose phenotype includes ocular coloboma. The authors also present supportive ank3 knockdown experiments in zebrafish, which revealed a coloboma and/or microphthalmia phenotype.; Changed rating: GREEN
Severe microcephaly v4.37 BUB1 Eleanor Williams Tag Q4_22_promote_green was removed from gene: BUB1.
Tag Q4_23_promote_green tag was added to gene: BUB1.
Childhood onset dystonia, chorea or related movement disorder v3.50 ADAR Eleanor Williams commented on gene: ADAR
Childhood onset dystonia, chorea or related movement disorder v3.50 ADAR Eleanor Williams Tag Q4_22_MOI was removed from gene: ADAR.
Structural eye disease v3.25 ANK3 Sarah Leigh Added comment: Comment on phenotypes: Ocular coloboma has yet to be associated with OMIM:615493.
Structural eye disease v3.25 ANK3 Sarah Leigh Phenotypes for gene: ANK3 were changed from Ocular coloboma to Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
Arthrogryposis v5.17 SELENON Eleanor Williams Tag Q1_23_MOI was removed from gene: SELENON.
Fetal anomalies v3.111 C1QBP Eleanor Williams commented on gene: C1QBP
Fetal anomalies v3.111 C1QBP Eleanor Williams Tag Q2_23_promote_green was removed from gene: C1QBP.
Tag Q2_23_NHS_review was removed from gene: C1QBP.
Childhood onset hereditary spastic paraplegia v4.26 SPG7 Eleanor Williams commented on gene: SPG7
Childhood onset hereditary spastic paraplegia v4.26 SPG7 Eleanor Williams Tag Q2_23_MOI was removed from gene: SPG7.
Mitochondrial disorders v4.99 SPG7 Eleanor Williams commented on gene: SPG7
Mitochondrial disorders v4.99 SPG7 Eleanor Williams Tag Q2_23_MOI was removed from gene: SPG7.
Arthrogryposis v5.17 SELENON Eleanor Williams commented on gene: SELENON
Structural eye disease v3.24 ANK3 Sarah Leigh Publications for gene: ANK3 were set to 35034853
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2: Removed the Q2_23_promote_green tag as has now been promoted to green.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDX2.
Structural eye disease v3.23 ANK3 Sarah Leigh Classified gene: ANK3 as Amber List (moderate evidence)
Structural eye disease v3.23 ANK3 Sarah Leigh Gene: ank3 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v3.3 ADAMTS13 Sarah Leigh Tag Q4_23_NHS_review tag was added to gene: ADAMTS13.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 PTPN2 Hannah Knight reviewed gene: PTPN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32721438; Phenotypes: Very early onset inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ARHGAP35.
Tag Q4_23_NHS_review tag was added to gene: ARHGAP35.
Structural eye disease v3.22 ARHGAP35 Sarah Leigh edited their review of gene: ARHGAP35: Added comment: ARHGAP35 variants are not associated with a phenotype in OMIM, but ARHGAP35 has definitive association with ARHGAP35-related developmental disorder (monoallelic) in Gen2Phen gene. PMID: 36450800 reports four monoallelic ARHGAP35 variants in four unrelated cases.; Changed rating: GREEN
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Classified gene: ARHGAP35 as Amber List (moderate evidence)
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Structural eye disease v3.22 ARHGAP35 Sarah Leigh Gene: arhgap35 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v3.3 ADAMTS13 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ADAMTS13.
Bleeding and platelet disorders v3.3 ADAMTS13 Sarah Leigh Classified gene: ADAMTS13 as Amber List (moderate evidence)
Bleeding and platelet disorders v3.3 ADAMTS13 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Bleeding and platelet disorders v3.3 ADAMTS13 Sarah Leigh Gene: adamts13 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v3.2 ADAMTS13 Sarah Leigh reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v3.73 ZFYVE19 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZFYVE19.
DDG2P v3.73 ZFYVE19 Achchuthan Shanmugasundram commented on gene: ZFYVE19: The OMIM entry for this gene is OMIM:619635, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 TUBGCP2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TUBGCP2.
Intellectual disability v5.313 TUBGCP2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TUBGCP2.
DDG2P v3.73 TTC5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TTC5.
DDG2P v3.73 TRIT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1.
Fetal anomalies v3.111 TRIT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PLA2G6.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh edited their review of gene: PLA2G6: Changed rating: GREEN
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh commented on gene: PLA2G6: Sixteen cases of PLA2G6-associated neurodegeneration (PLAN) were examined in PMID: 30340910. Seizures were evident in 5/10 cases with infantile PLAN and in 3/6 cases with childhood PLAN. A total of nine PLA2G6 variants were associated with a phenotype that included seizures.
DDG2P v3.73 TMEM94 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM94.
DDG2P v3.73 TMEM63C Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM63C.
DDG2P v3.73 TMEM63A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM63A.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 TMEM251 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: TMEM251.
Tag gene-checked tag was added to gene: TMEM251.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 TMEM251 Achchuthan Shanmugasundram commented on gene: TMEM251: Added new-gene-name tag, new approved HGNC gene symbol for TMEM251 is LYSET.

The OMIM entry for this gene is OMIM:619332, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Skeletal dysplasia v4.23 TMEM251 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: TMEM251.
Tag gene-checked tag was added to gene: TMEM251.
Skeletal dysplasia v4.23 TMEM251 Achchuthan Shanmugasundram commented on gene: TMEM251
DDG2P v3.73 TMEM251 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM251.
DDG2P v3.73 TMEM251 Achchuthan Shanmugasundram commented on gene: TMEM251: The OMIM entry for this gene is OMIM:619332, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 TMEM222 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM222.
DDG2P v3.73 TMEM218 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM218.
DDG2P v3.73 TMEM163 Achchuthan Shanmugasundram commented on gene: TMEM163: The OMIM entry for this gene is OMIM:618978, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Classified gene: PLA2G6 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v4.120 PLA2G6 Sarah Leigh Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.119 PLA2G6 Sarah Leigh Added comment: Comment on phenotypes: PLA2G6-associated neurodegeneration (PLAN)
Early onset or syndromic epilepsy v4.119 PLA2G6 Sarah Leigh Phenotypes for gene: PLA2G6 were changed from PLA2G6-associated neurodegeneration (PLAN); Familial cortical myoclonic tremor with epilepsy (FCMTE); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217 to Infantile neuroaxonal dystrophy 1, OMIM:256600; neurodegeneration with brain iron accumulation 2A, MONDO:0024457; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; neurodegeneration with brain iron accumulation 2B, MONDO:0012444; Parkinson disease 14, autosomal recessive, OMIM:612953; autosomal recessive Parkinson disease 14, MONDO:0013060
DDG2P v3.73 TMEM163 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TMEM163.
DDG2P v3.73 TBC1D2B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D2B.
DDG2P v3.73 SPATA5L1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SPATA5L1.
DDG2P v3.73 RNPC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNPC3.
DDG2P v3.73 PPP1R21 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PPP1R21.
Growth failure in early childhood v3.3 PAPPA2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAPPA2.
Growth failure in early childhood v3.3 PAPPA2 Achchuthan Shanmugasundram commented on gene: PAPPA2
Paediatric disorders - additional genes v3.5 PAPPA2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAPPA2.
Paediatric disorders - additional genes v3.5 PAPPA2 Achchuthan Shanmugasundram commented on gene: PAPPA2
DDG2P v3.73 NTNG2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NTNG2.
DDG2P v3.73 NHLRC2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NHLRC2.
Fetal anomalies v3.111 NDUFAF8 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NDUFAF8.
DDG2P v3.73 NDUFAF8 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NDUFAF8.
DDG2P v3.73 MMGT1 Achchuthan Shanmugasundram commented on gene: MMGT1: The OMIM entry for this gene is OMIM:301098, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 MMGT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MMGT1.
Intellectual disability v5.313 MMGT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MMGT1.
Intellectual disability v5.313 MMGT1 Achchuthan Shanmugasundram commented on gene: MMGT1
DDG2P v3.73 METTL5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: METTL5.
White matter disorders and cerebral calcification - narrow panel v3.21 HPDL Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HPDL.
DDG2P v3.73 HPDL Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HPDL.
Early onset or syndromic epilepsy v4.118 PLA2G6 Sarah Leigh Tag watchlist_moi tag was added to gene: PLA2G6.
Early onset or syndromic epilepsy v4.118 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Early onset or syndromic epilepsy v4.118 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Childhood onset hereditary spastic paraplegia v4.26 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Childhood onset hereditary spastic paraplegia v4.26 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Malformations of cortical development v4.8 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Malformations of cortical development v4.8 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Intellectual disability v5.313 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Intellectual disability v5.313 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Likely inborn error of metabolism - targeted testing not possible v4.52 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
Tag Q4_23_demote_red tag was added to gene: SLC6A20.
Likely inborn error of metabolism - targeted testing not possible v4.52 SLC6A20 Sarah Leigh edited their review of gene: SLC6A20: Added comment: The gene disease associations of SLC6A20 with Hyperglycinuria (OMIM:138500) and Iminoglycinuria, digenic (OMIM:242600) have been refuted in OMIM. The single SLC6A20 variant rs17279437 has been reclassified as a polymorphism, because it is present in 19,986 of 278,932 alleles and in 856 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.07165 (Personal Communication to OMIM from Hamosh, A. Baltimore, Md. 3rd April 2023).; Changed rating: RED; Changed phenotypes to: Hyperglycinuria 138500, Iminoglycinuria, digenic 242600
Undiagnosed metabolic disorders v1.601 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram Deleted their comment
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram commented on gene: GREB1L: The OMIM entry for this gene is OMIM:617782, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram commented on gene: GREB1L: The OMIM entry for this gene is OMIM:617782, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Classified gene: SLC6A20 as Red List (low evidence)
Severe Paediatric Disorders v1.174 SLC6A20 Sarah Leigh Gene: slc6a20 has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.173 SLC6A20 Sarah Leigh reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GREB1L.
Undiagnosed metabolic disorders v1.601 SLC6A20 Sarah Leigh Classified gene: SLC6A20 as Red List (low evidence)
Undiagnosed metabolic disorders v1.601 SLC6A20 Sarah Leigh Gene: slc6a20 has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.600 SLC6A20 Sarah Leigh edited their review of gene: SLC6A20: Added comment: The gene disease associations of SLC6A20 with Hyperglycinuria (OMIM:138500) and Iminoglycinuria, digenic (OMIM:242600) have been refuted in OMIM. The single SLC6A20 variant rs17279437 has been reclassified as a polymorphism, because it is present in 19,986 of 278,932 alleles and in 856 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.07165 (Personal Communication to OMIM from Hamosh, A. Baltimore, Md. 3rd April 2023).; Changed rating: RED; Changed phenotypes to: Hyperglycinuria 138500, Iminoglycinuria, digenic 242600
Skeletal ciliopathies v3.11 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
Skeletal ciliopathies v3.11 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Neurological ciliopathies v3.13 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
Neurological ciliopathies v3.13 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Ophthalmological ciliopathies v3.3 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
Ophthalmological ciliopathies v3.3 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
DDG2P v3.73 FAM149B1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FAM149B1.
DDG2P v3.73 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1: The OMIM entry for this gene is OMIM:618413, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Respiratory ciliopathies including non-CF bronchiectasis v3.1 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
Respiratory ciliopathies including non-CF bronchiectasis v3.1 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1
Laterality disorders and isomerism v3.4 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1
Laterality disorders and isomerism v3.4 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
DDG2P v3.73 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
DDG2P v3.73 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1: The OMIM entry for this gene is OMIM:620279, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Paediatric or syndromic cardiomyopathy v3.39 SLC22A5 Eleanor Williams Tag Q4_23_MOI tag was added to gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v3.39 SLC22A5 Eleanor Williams Added comment: Comment on mode of inheritance: Changing the mode of inheritance back to Both monoallelic and biallelic as this is what it is on the last signed off version of the panel (v3.0) and no change in mode of inheritance has been agreed. Also adding a tag to propose that the mode of inheritance should be changed to biallelic as proposed by Sarah Leigh.
Paediatric or syndromic cardiomyopathy v3.39 SLC22A5 Eleanor Williams Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v4.23 KIF24 Eleanor Williams Tag gene-checked tag was added to gene: KIF24.
Skeletal dysplasia v4.23 KIF24 Eleanor Williams commented on gene: KIF24: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:35748595 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Mitochondrial disorders v4.99 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO2 Eleanor Williams commented on gene: MT-CO2: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:23616164 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Mitochondrial disorders v4.99 COX16 Achchuthan Shanmugasundram commented on gene: COX16
Possible mitochondrial disorder - nuclear genes v3.49 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Possible mitochondrial disorder - nuclear genes v3.49 COX16 Achchuthan Shanmugasundram commented on gene: COX16
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Mitochondrial disorder with complex IV deficiency v3.2 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO1 Eleanor Williams commented on gene: MT-CO1: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:25929793 to make sure it is the same gene listed in the publication as on this panel. The gene name in this publication is COX1 but this is an alias name for MT-CO1(https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419) , and therefore it is likely this is the correct gene. Added the gene-checked tag
Mitochondrial disorder with complex IV deficiency v3.2 COX16 Achchuthan Shanmugasundram commented on gene: COX16
DDG2P v3.73 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
DDG2P v3.73 COX16 Achchuthan Shanmugasundram commented on gene: COX16: The OMIM entry for this gene is OMIM:618064, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Acute rhabdomyolysis v1.16 MT-CO1 Eleanor Williams commented on gene: MT-CO1
DDG2P v3.73 CEP85L Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CEP85L.
DDG2P v3.73 CEP85L Achchuthan Shanmugasundram commented on gene: CEP85L: The OMIM entry for this gene is OMIM:618865, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Paediatric or syndromic cardiomyopathy v3.38 RRAGC Eleanor Williams Tag gene-checked tag was added to gene: RRAGC.
Intellectual disability v5.313 CCDC82 Achchuthan Shanmugasundram commented on gene: CCDC82: The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Paediatric or syndromic cardiomyopathy v3.38 RRAGC Eleanor Williams commented on gene: RRAGC
Intellectual disability v5.313 CCDC82 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC82.
Childhood onset hereditary spastic paraplegia v4.26 CCDC82 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC82.
Childhood onset hereditary spastic paraplegia v4.26 CCDC82 Achchuthan Shanmugasundram commented on gene: CCDC82: The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Rare multisystem ciliopathy disorders v1.168 CCDC32 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Intellectual disability v5.313 CCDC32 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 CCDC32 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Laterality disorders and isomerism v3.4 CCDC32 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Severe Paediatric Disorders v1.173 CCDC47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC47.
Arthrogryposis v5.17 CCDC47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC47.
Arthrogryposis v5.17 CCDC47 Achchuthan Shanmugasundram commented on gene: CCDC47
Likely inborn error of metabolism - targeted testing not possible v4.52 SLC6A20 Eleanor Williams commented on gene: SLC6A20
DDG2P v3.73 CCDC47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC47.
DDG2P v3.73 CCDC47 Achchuthan Shanmugasundram commented on gene: CCDC47: The OMIM entry for this gene is OMIM:618260, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Intellectual disability v5.313 ZMYND8 Eleanor Williams commented on gene: ZMYND8
Intellectual disability v5.313 ZMYND8 Eleanor Williams Tag gene-checked tag was added to gene: ZMYND8.
Intellectual disability v5.313 TRA2B Eleanor Williams Tag gene-checked tag was added to gene: TRA2B.
Intellectual disability v5.313 TRA2B Eleanor Williams commented on gene: TRA2B
Intellectual disability v5.313 SLC32A1 Eleanor Williams commented on gene: SLC32A1
Intellectual disability v5.313 SLC32A1 Eleanor Williams Tag gene-checked tag was added to gene: SLC32A1.
Intellectual disability v5.313 SHANK1 Eleanor Williams Tag gene-checked tag was added to gene: SHANK1.
Intellectual disability v5.313 SHANK1 Eleanor Williams commented on gene: SHANK1
Intellectual disability v5.313 RBSN Eleanor Williams commented on gene: RBSN
Intellectual disability v5.313 RBSN Eleanor Williams Tag gene-checked tag was added to gene: RBSN.
Intellectual disability v5.313 POU3F2 Eleanor Williams Tag gene-checked tag was added to gene: POU3F2.
Intellectual disability v5.313 POU3F2 Eleanor Williams commented on gene: POU3F2
Intellectual disability v5.313 PLK1 Eleanor Williams Tag gene-checked tag was added to gene: PLK1.
Intellectual disability v5.313 PLK1 Eleanor Williams commented on gene: PLK1
Intellectual disability v5.313 PAN2 Eleanor Williams commented on gene: PAN2
Intellectual disability v5.313 PAN2 Eleanor Williams Tag gene-checked tag was added to gene: PAN2.
Intellectual disability v5.313 OTUD7A Eleanor Williams commented on gene: OTUD7A
Intellectual disability v5.313 OTUD7A Eleanor Williams Tag gene-checked tag was added to gene: OTUD7A.
Intellectual disability v5.313 LHX2 Eleanor Williams Tag gene-checked tag was added to gene: LHX2.
Intellectual disability v5.313 LHX2 Eleanor Williams commented on gene: LHX2
Intellectual disability v5.313 KLHL20 Eleanor Williams commented on gene: KLHL20
Intellectual disability v5.313 KLHL20 Eleanor Williams Tag gene-checked tag was added to gene: KLHL20.
Intellectual disability v5.313 KDM5A Eleanor Williams Tag gene-checked tag was added to gene: KDM5A.
Intellectual disability v5.313 KDM5A Eleanor Williams commented on gene: KDM5A
Intellectual disability v5.313 KDM2B Eleanor Williams Tag gene-checked tag was added to gene: KDM2B.
Intellectual disability v5.313 KDM2B Eleanor Williams commented on gene: KDM2B
Early onset or syndromic epilepsy v4.118 TRA2B Eleanor Williams Tag gene-checked tag was added to gene: TRA2B.
Early onset or syndromic epilepsy v4.118 TRA2B Eleanor Williams commented on gene: TRA2B
Early onset or syndromic epilepsy v4.118 SLC32A1 Eleanor Williams Tag gene-checked tag was added to gene: SLC32A1.
Early onset or syndromic epilepsy v4.118 SLC32A1 Eleanor Williams commented on gene: SLC32A1
Early onset or syndromic epilepsy v4.118 RHEB Eleanor Williams Tag gene-checked tag was added to gene: RHEB.
Early onset or syndromic epilepsy v4.118 RHEB Eleanor Williams commented on gene: RHEB: This gene is not currently associated with a disease phenotype in OMIM, but checked PMID: 33434304 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Early onset or syndromic epilepsy v4.118 PLK1 Eleanor Williams commented on gene: PLK1
Early onset or syndromic epilepsy v4.118 PLK1 Eleanor Williams Tag gene-checked tag was added to gene: PLK1.
Early onset or syndromic epilepsy v4.118 OTUD7A Eleanor Williams Tag gene-checked tag was added to gene: OTUD7A.
Early onset or syndromic epilepsy v4.118 OTUD7A Eleanor Williams commented on gene: OTUD7A
Early onset or syndromic epilepsy v4.118 KLHL20 Eleanor Williams Tag gene-checked tag was added to gene: KLHL20.
Early onset or syndromic epilepsy v4.118 KLHL20 Eleanor Williams commented on gene: KLHL20
Adult onset neurodegenerative disorder v4.37 SS18L1 Eleanor Williams Tag gene-checked tag was added to gene: SS18L1.
Adult onset neurodegenerative disorder v4.37 SS18L1 Eleanor Williams commented on gene: SS18L1
DDG2P v3.73 ZMYND8 Eleanor Williams commented on gene: ZMYND8
DDG2P v3.73 ZMYND8 Eleanor Williams Tag gene-checked tag was added to gene: ZMYND8.
DDG2P v3.73 WNK3 Eleanor Williams Tag gene-checked tag was added to gene: WNK3.
DDG2P v3.73 WNK3 Eleanor Williams commented on gene: WNK3
DDG2P v3.73 WDR5 Eleanor Williams commented on gene: WDR5
DDG2P v3.73 WDR5 Eleanor Williams Tag gene-checked tag was added to gene: WDR5.
DDG2P v3.73 UPF1 Eleanor Williams Tag gene-checked tag was added to gene: UPF1.
DDG2P v3.73 UPF1 Eleanor Williams commented on gene: UPF1
DDG2P v3.73 TRA2B Eleanor Williams commented on gene: TRA2B
DDG2P v3.73 TRA2B Eleanor Williams Tag gene-checked tag was added to gene: TRA2B.
DDG2P v3.73 SLC32A1 Eleanor Williams commented on gene: SLC32A1
DDG2P v3.73 SLC32A1 Eleanor Williams Tag gene-checked tag was added to gene: SLC32A1.
DDG2P v3.73 SHROOM3 Eleanor Williams commented on gene: SHROOM3
DDG2P v3.73 SHROOM3 Eleanor Williams Tag gene-checked tag was added to gene: SHROOM3.
DDG2P v3.73 SHANK1 Eleanor Williams commented on gene: SHANK1
DDG2P v3.73 SHANK1 Eleanor Williams Tag gene-checked tag was added to gene: SHANK1.
DDG2P v3.73 RRAS Eleanor Williams Tag gene-checked tag was added to gene: RRAS.
DDG2P v3.73 RRAS Eleanor Williams commented on gene: RRAS
DDG2P v3.73 RAB14 Eleanor Williams commented on gene: RAB14
DDG2P v3.73 RAB14 Eleanor Williams Tag gene-checked tag was added to gene: RAB14.
DDG2P v3.73 PSMC5 Eleanor Williams Tag gene-checked tag was added to gene: PSMC5.
DDG2P v3.73 PSMC5 Eleanor Williams commented on gene: PSMC5
DDG2P v3.73 PAN2 Eleanor Williams commented on gene: PAN2
DDG2P v3.73 PAN2 Eleanor Williams Tag gene-checked tag was added to gene: PAN2.
DDG2P v3.73 ONECUT1 Eleanor Williams commented on gene: ONECUT1
DDG2P v3.73 ONECUT1 Eleanor Williams Tag gene-checked tag was added to gene: ONECUT1.
DDG2P v3.73 NRXN2 Eleanor Williams Tag gene-checked tag was added to gene: NRXN2.
DDG2P v3.73 NRXN2 Eleanor Williams commented on gene: NRXN2
DDG2P v3.73 MSL2 Eleanor Williams commented on gene: MSL2
DDG2P v3.73 MSL2 Eleanor Williams Tag gene-checked tag was added to gene: MSL2.
DDG2P v3.73 MIR17HG Eleanor Williams Tag gene-checked tag was added to gene: MIR17HG.
DDG2P v3.73 MIR17HG Eleanor Williams commented on gene: MIR17HG
Rare multisystem ciliopathy disorders v1.168 CCDC32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC32.
Rare multisystem ciliopathy disorders v1.168 CCDC32 Achchuthan Shanmugasundram commented on gene: CCDC32
Intellectual disability v5.313 CCDC32 Achchuthan Shanmugasundram commented on gene: CCDC32
Laterality disorders and isomerism v3.4 CCDC32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC32.
Laterality disorders and isomerism v3.4 CCDC32 Achchuthan Shanmugasundram commented on gene: CCDC32
Mitochondrial disorders v4.99 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Intellectual disability v5.313 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Early onset or syndromic epilepsy v4.118 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Possible mitochondrial disorder - nuclear genes v3.49 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
White matter disorders and cerebral calcification - narrow panel v3.21 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
DDG2P v3.73 CCDC32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC32.
DDG2P v3.73 CCDC32 Achchuthan Shanmugasundram commented on gene: CCDC32: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
White matter disorders and cerebral calcification - narrow panel v3.21 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Mitochondrial disorders v4.99 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Mitochondrial disorders v4.99 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Intellectual disability v5.313 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Intellectual disability v5.313 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Early onset or syndromic epilepsy v4.118 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Early onset or syndromic epilepsy v4.118 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Possible mitochondrial disorder - nuclear genes v3.49 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Possible mitochondrial disorder - nuclear genes v3.49 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
White matter disorders and cerebral calcification - narrow panel v3.21 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
White matter disorders and cerebral calcification - narrow panel v3.21 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Severe Paediatric Disorders v1.173 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Mitochondrial disorders v4.99 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Intellectual disability v5.313 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Early onset or syndromic epilepsy v4.118 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Monogenic hearing loss v4.18 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Fetal anomalies v3.111 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Childhood onset dystonia, chorea or related movement disorder v3.50 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Intellectual disability v5.313 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Early onset or syndromic epilepsy v4.118 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Monogenic hearing loss v4.18 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Childhood onset hereditary spastic paraplegia v4.26 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Severe microcephaly v4.37 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Early onset dystonia v1.135 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
DDG2P v3.73 KLF7 Eleanor Williams commented on gene: KLF7
DDG2P v3.73 KLF7 Eleanor Williams Tag gene-checked tag was added to gene: KLF7.
DDG2P v3.73 KIF5B Eleanor Williams Tag gene-checked tag was added to gene: KIF5B.
DDG2P v3.73 KIF5B Eleanor Williams commented on gene: KIF5B
DDG2P v3.73 KDM2B Eleanor Williams commented on gene: KDM2B
DDG2P v3.73 KDM2B Eleanor Williams Tag gene-checked tag was added to gene: KDM2B.
DDG2P v3.73 KCNJ8 Eleanor Williams Tag gene-checked tag was added to gene: KCNJ8.
DDG2P v3.73 KCNJ8 Eleanor Williams commented on gene: KCNJ8
DDG2P v3.73 KCNH5 Eleanor Williams commented on gene: KCNH5
DDG2P v3.73 KCNH5 Eleanor Williams Tag gene-checked tag was added to gene: KCNH5.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IKZF2 Eleanor Williams Tag gene-checked tag was added to gene: IKZF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 IKZF2 Eleanor Williams commented on gene: IKZF2
DDG2P v3.73 HYAL2 Eleanor Williams Tag gene-checked tag was added to gene: HYAL2.
DDG2P v3.73 HYAL2 Eleanor Williams commented on gene: HYAL2
DDG2P v3.73 HNRNPD Eleanor Williams commented on gene: HNRNPD
DDG2P v3.73 HNRNPD Eleanor Williams Tag gene-checked tag was added to gene: HNRNPD.
DDG2P v3.73 HMGB1 Eleanor Williams Tag gene-checked tag was added to gene: HMGB1.
DDG2P v3.73 HMGB1 Eleanor Williams commented on gene: HMGB1
DDG2P v3.73 GSPT2 Eleanor Williams commented on gene: GSPT2
DDG2P v3.73 GSPT2 Eleanor Williams Tag gene-checked tag was added to gene: GSPT2.
DDG2P v3.73 GNA14 Eleanor Williams Tag gene-checked tag was added to gene: GNA14.
DDG2P v3.73 GNA14 Eleanor Williams commented on gene: GNA14
DDG2P v3.73 GIGYF1 Eleanor Williams commented on gene: GIGYF1
DDG2P v3.73 GIGYF1 Eleanor Williams Tag gene-checked tag was added to gene: GIGYF1.
DDG2P v3.73 FZD5 Eleanor Williams Tag gene-checked tag was added to gene: FZD5.
DDG2P v3.73 FZD5 Eleanor Williams commented on gene: FZD5
Intellectual disability v5.313 FILIP1 Eleanor Williams Tag gene-checked tag was added to gene: FILIP1.
Intellectual disability v5.313 FILIP1 Eleanor Williams commented on gene: FILIP1
Arthrogryposis v5.17 FILIP1 Eleanor Williams Tag gene-checked tag was added to gene: FILIP1.
Arthrogryposis v5.17 FILIP1 Eleanor Williams commented on gene: FILIP1
Ataxia and cerebellar anomalies - narrow panel v4.38 FEM1C Eleanor Williams Tag gene-checked tag was added to gene: FEM1C.
Ataxia and cerebellar anomalies - narrow panel v4.38 FEM1C Eleanor Williams commented on gene: FEM1C: This gene currently has no phenotype listed in OMIM so checked PMID:36336956 to make sure the same gene name is listed. It is so added the gene-checked tag.
Hereditary neuropathy or pain disorder v3.60 DRP2 Eleanor Williams Tag gene-checked tag was added to gene: DRP2.
Hereditary neuropathy or pain disorder v3.60 DRP2 Eleanor Williams commented on gene: DRP2
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 TNFRSF9 Arina Puzriakova Phenotypes for gene: TNFRSF9 were changed from CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma to Immunodeficiency 109 with lymphoproliferation, OMIM:620282
DDG2P v3.73 DDX23 Eleanor Williams Tag gene-checked tag was added to gene: DDX23.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.49 TNFRSF9 Arina Puzriakova Tag gene-checked was removed from gene: TNFRSF9.
DDG2P v3.73 DDX23 Eleanor Williams commented on gene: DDX23
Intellectual disability v5.313 SRRM2 Arina Puzriakova Phenotypes for gene: SRRM2 were changed from SRRM2-related developmental disorder (monoallelic) to Intellectual developmental disorder, autosomal dominant 72, OMIM:620439
Intellectual disability v5.312 DDX23 Eleanor Williams Tag gene-checked tag was added to gene: DDX23.
Intellectual disability v5.312 SRRM2 Arina Puzriakova Tag gene-checked was removed from gene: SRRM2.
Intellectual disability v5.312 DDX23 Eleanor Williams commented on gene: DDX23
Intellectual disability v5.312 SCAF4 Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
Intellectual disability v5.311 SCAF4 Arina Puzriakova Tag gene-checked was removed from gene: SCAF4.
Early onset or syndromic epilepsy v4.118 SCAF4 Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
Early onset or syndromic epilepsy v4.117 SCAF4 Arina Puzriakova Tag gene-checked was removed from gene: SCAF4.
White matter disorders and cerebral calcification - narrow panel v3.21 SCAF4 Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
White matter disorders and cerebral calcification - narrow panel v3.20 SCAF4 Arina Puzriakova Tag gene-checked was removed from gene: SCAF4.
Intellectual disability v5.311 CTR9 Eleanor Williams Tag gene-checked tag was added to gene: CTR9.
Intellectual disability v5.311 CTR9 Eleanor Williams commented on gene: CTR9
Congenital myopathy v4.31 RYR3 Arina Puzriakova Phenotypes for gene: RYR3 were changed from Nemaline myopathy, MONDO:0018958 to Congenital myopathy 20, OMIM:620310; Nemaline myopathy, MONDO:0018958
Congenital myopathy v4.30 RYR3 Arina Puzriakova Tag gene-checked was removed from gene: RYR3.
Intellectual disability v5.311 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071; Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v3.111 ROBO1 Arina Puzriakova Tag gene-checked was removed from gene: ROBO1.
DDG2P v3.73 CTNND2 Eleanor Williams commented on gene: CTNND2
DDG2P v3.73 CTNND2 Eleanor Williams Tag gene-checked tag was added to gene: CTNND2.
Intellectual disability v5.310 RFX7 Arina Puzriakova Phenotypes for gene: RFX7 were changed from Intellectual disability, MONDO:0001071; Autism spectrum disorder, MONDO:0005258; Attention deficit-hyperactivity disorder, MONDO:0007743 to Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330
Intellectual disability v5.309 RFX7 Arina Puzriakova Tag gene-checked was removed from gene: RFX7.
White matter disorders and cerebral calcification - narrow panel v3.20 CLDN5 Eleanor Williams Tag gene-checked tag was added to gene: CLDN5.
White matter disorders and cerebral calcification - narrow panel v3.20 CLDN5 Eleanor Williams commented on gene: CLDN5: This gene currently has no phenotype in OMIM but the paper PMID:36477332 mentions the same gene name so adding the gene-checked tag.
Ectodermal dysplasia v3.10 PPP1R13L Arina Puzriakova Classified gene: PPP1R13L as Amber List (moderate evidence)
Ectodermal dysplasia v3.10 PPP1R13L Arina Puzriakova Gene: ppp1r13l has been classified as Amber List (Moderate Evidence).
Ectodermal dysplasia v3.9 PPP1R13L Arina Puzriakova gene: PPP1R13L was added
gene: PPP1R13L was added to Ectodermal dysplasia. Sources: Literature
Q4_23_promote_green tags were added to gene: PPP1R13L.
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 32666529; 35924320
Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Review for gene: PPP1R13L was set to GREEN
Added comment: Multiple individuals reported with variants in this gene. Phenotype consists of cardiac defects and variable ectodermal abnormalities affecting hair, skin and teeth. Given this is a prominent component of the phenotype in some cases and there are a sufficient number of individuals to support this gene-disease association, there is enough evidence to promote PPP1R13L to green status at the next GMS panel update.
Sources: Literature
Intellectual disability v5.309 CLDN5 Eleanor Williams commented on gene: CLDN5
Intellectual disability v5.309 CLDN5 Eleanor Williams Tag gene-checked tag was added to gene: CLDN5.
Early onset or syndromic epilepsy v4.117 CLDN5 Eleanor Williams Tag gene-checked tag was added to gene: CLDN5.
Early onset or syndromic epilepsy v4.117 CLDN5 Eleanor Williams commented on gene: CLDN5
Limb disorders v4.11 CDX2 Eleanor Williams Tag gene-checked tag was added to gene: CDX2.
Limb disorders v4.11 CDX2 Eleanor Williams commented on gene: CDX2: This gene has no phenotype in OMIM so checked that the publication PMID: 34671974 mentions the same gene name. It does. Adding the gene-checked tag.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag gene-checked tag was added to gene: CDX2.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2
Dilated Cardiomyopathy and conduction defects v1.83 PPP1R13L Arina Puzriakova Phenotypes for gene: PPP1R13L were changed from cardio-cutaneous syndrome; sudden cardiac death to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519; cardio-cutaneous syndrome; sudden cardiac death
Paediatric or syndromic cardiomyopathy v3.38 PPP1R13L Arina Puzriakova Phenotypes for gene: PPP1R13L were changed from sudden cardiac death; cardio-cutaneous syndrome to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Paediatric or syndromic cardiomyopathy v3.37 PPP1R13L Arina Puzriakova Tag gene-checked was removed from gene: PPP1R13L.
Acute rhabdomyolysis v1.16 OBSCN Arina Puzriakova Phenotypes for gene: OBSCN were changed from Rhabdomyolysis, myopathy to {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235
Acute rhabdomyolysis v1.15 OBSCN Arina Puzriakova Tag gene-checked was removed from gene: OBSCN.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.49 MAP3K14 Arina Puzriakova Phenotypes for gene: MAP3K14 were changed from Recessive Atypical Combined Immunodeficiency; Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity; Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency 112, OMIM:620449
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 MAP3K14 Arina Puzriakova Tag gene-checked was removed from gene: MAP3K14.
COVID-19 research v1.137 MAP3K14 Arina Puzriakova Phenotypes for gene: MAP3K14 were changed from Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections; Recessive Atypical Combined Immunodeficiency; Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity; Immunodeficiencies affecting cellular and humoral immunity to Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections; Recessive Atypical Combined Immunodeficiency; Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 112, OMIM:620449
COVID-19 research v1.136 MAP3K14 Arina Puzriakova Tag gene-checked was removed from gene: MAP3K14.
Early onset or syndromic epilepsy v4.117 AGO1 Arina Puzriakova Classified gene: AGO1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.117 AGO1 Arina Puzriakova Gene: ago1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.116 AGO1 Arina Puzriakova gene: AGO1 was added
gene: AGO1 was added to Early onset or syndromic epilepsy. Sources: Literature
Q4_23_promote_green tags were added to gene: AGO1.
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AGO1 were set to 25356899; 30213762; 34930816
Phenotypes for gene: AGO1 were set to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Review for gene: AGO1 was set to GREEN
Added comment: Multiple individuals reported with de novo variants in this gene. About half of patients develop seizures, which may be controlled or refractory.

Given that in some patients seizures are a prominent component of their phenotype and there are a sufficient number of individuals to support this gene-disease association, there is enough evidence to promote AGO1 to green status at the next GMS panel update.
Sources: Literature
Intellectual disability v5.309 AGO1 Arina Puzriakova Tag gene-checked was removed from gene: AGO1.
Intellectual disability v5.309 AGO1 Arina Puzriakova Phenotypes for gene: AGO1 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Autism to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Neurological ciliopathies v3.13 CBY1 Eleanor Williams Tag gene-checked tag was added to gene: CBY1.
Neurological ciliopathies v3.13 CBY1 Eleanor Williams commented on gene: CBY1
Intellectual disability v5.308 CAPRIN1 Eleanor Williams Tag gene-checked tag was added to gene: CAPRIN1.
Intellectual disability v5.308 CAPRIN1 Eleanor Williams commented on gene: CAPRIN1
Early onset or syndromic epilepsy v4.115 CAPRIN1 Eleanor Williams Tag gene-checked tag was added to gene: CAPRIN1.
Early onset or syndromic epilepsy v4.115 CAPRIN1 Eleanor Williams commented on gene: CAPRIN1
DDG2P v3.73 CAPRIN1 Eleanor Williams Tag gene-checked tag was added to gene: CAPRIN1.
DDG2P v3.73 CAPRIN1 Eleanor Williams commented on gene: CAPRIN1
DDG2P v3.73 BRSK2 Eleanor Williams Tag gene-checked tag was added to gene: BRSK2.
DDG2P v3.73 BRSK2 Eleanor Williams commented on gene: BRSK2
DDG2P v3.73 BRD4 Eleanor Williams Tag gene-checked tag was added to gene: BRD4.
DDG2P v3.73 BRD4 Eleanor Williams commented on gene: BRD4
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Eleanor Williams Tag gene-checked tag was added to gene: ARFGEF3.
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Eleanor Williams changed review comment from: No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark.; to: No phenotype in OMIM. Checked that the publication PMID:33098801 mentions this gene in the supplementary material (page 55) and the 3 cases reported by Zornitza Stark. Adding the gene-checked tag.
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Eleanor Williams commented on gene: ARFGEF3
DDG2P v3.73 KIAA0391 Achchuthan Shanmugasundram commented on gene: KIAA0391: Added new-gene-name tag, new approved HGNC gene symbol for KIAA0391 is PRORP.
DDG2P v3.73 HIST1H2AC Achchuthan Shanmugasundram commented on gene: HIST1H2AC: Added new-gene-name tag, new approved HGNC gene symbol for HIST1H2AC is H2AC6.
DDG2P v3.73 ARHGAP35 Eleanor Williams commented on gene: ARHGAP35
DDG2P v3.73 WARS Achchuthan Shanmugasundram commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1.
DDG2P v3.73 ARHGAP35 Eleanor Williams Tag gene-checked tag was added to gene: ARHGAP35.
DDG2P v3.73 ARF3 Eleanor Williams commented on gene: ARF3
DDG2P v3.73 TMEM251 Achchuthan Shanmugasundram commented on gene: TMEM251: Added new-gene-name tag, new approved HGNC gene symbol for TMEM251 is LYSET.
DDG2P v3.73 ARF3 Eleanor Williams Tag gene-checked tag was added to gene: ARF3.
DDG2P v3.73 TARS Achchuthan Shanmugasundram commented on gene: TARS: Added new-gene-name tag, new approved HGNC gene symbol for TARS is TARS1.
DDG2P v3.73 AMOTL1 Eleanor Williams commented on gene: AMOTL1
DDG2P v3.73 AMOTL1 Eleanor Williams Tag gene-checked tag was added to gene: AMOTL1.
DDG2P v3.73 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1: Added new-gene-name tag, new approved HGNC gene symbol for SPATA5L1 is AFG2B.
DDG2P v3.73 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5: Added new-gene-name tag, new approved HGNC gene symbol for SPATA5 is AFG2A.
DDG2P v3.73 SARS Achchuthan Shanmugasundram commented on gene: SARS: Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1.
DDG2P v3.73 RARS Achchuthan Shanmugasundram commented on gene: RARS: Added new-gene-name tag, new approved HGNC gene symbol for RARS is RARS1.
DDG2P v3.73 ADAMTS9 Eleanor Williams commented on gene: ADAMTS9
DDG2P v3.73 NARS Achchuthan Shanmugasundram commented on gene: NARS: Added new-gene-name tag, new approved HGNC gene symbol for NARS is NARS1.
DDG2P v3.73 ADAMTS9 Eleanor Williams Tag gene-checked tag was added to gene: ADAMTS9.
DDG2P v3.73 MYLPF Achchuthan Shanmugasundram commented on gene: MYLPF: Added new-gene-name tag, new approved HGNC gene symbol for MYLPF is MYL11.
DDG2P v3.73 MTSS1L Achchuthan Shanmugasundram commented on gene: MTSS1L: Added new-gene-name tag, new approved HGNC gene symbol for MTSS1L is MTSS2.
DDG2P v3.73 H3F3B Achchuthan Shanmugasundram commented on gene: H3F3B: Added new-gene-name tag, new approved HGNC gene symbol for H3F3B is H3-3B.
DDG2P v3.73 ATP5A1 Achchuthan Shanmugasundram commented on gene: ATP5A1: Added new-gene-name tag, new approved HGNC gene symbol for ATP5A1 is ATP5F1A.
Retinal disorders v4.36 CTNND1 Achchuthan Shanmugasundram Classified gene: CTNND1 as Amber List (moderate evidence)
Retinal disorders v4.36 CTNND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene to familial exudative vitreoretinopathy. Hence, this gene can be promoted to green rating in the next GMS update.
Retinal disorders v4.36 CTNND1 Achchuthan Shanmugasundram Gene: ctnnd1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.35 CTNND1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CTNND1.
Retinal disorders v4.35 CTNND1 Achchuthan Shanmugasundram gene: CTNND1 was added
gene: CTNND1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNND1 were set to 35700046
Phenotypes for gene: CTNND1 were set to exudative vitreoretinopathy, MONDO:0019516
Review for gene: CTNND1 was set to GREEN
Added comment: Of 140 probands of familial exudative vitreoretinopathy (FEVR) families that had whole exome sequencing, three patients were reported with three different heterozygous variants in CTNND1 gene. In addition, inducible deletion of Ctnnd1 in the postnatal mouse endothelial cells (ECs) exhibited typical phenotypes of FEVR with reactive gliosis.

This gene has not yet been associated with this FEVR phenotype either in OMIM or in Gene2Phenotype.
Sources: Literature
Intellectual disability v5.308 SRSF1 Achchuthan Shanmugasundram Classified gene: SRSF1 as Amber List (moderate evidence)
Intellectual disability v5.308 SRSF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (15 unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS review.
Intellectual disability v5.308 SRSF1 Achchuthan Shanmugasundram Gene: srsf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.307 SRSF1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SRSF1.
Intellectual disability v5.307 SRSF1 Achchuthan Shanmugasundram gene: SRSF1 was added
gene: SRSF1 was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRSF1 were set to 37071997
Phenotypes for gene: SRSF1 were set to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489
Review for gene: SRSF1 was set to GREEN
Added comment: There are 17 individuals from 16 different families were reported with 15 different monoallelic variants (mostly de novo) in SRSF1 gene. They were reported with a neurodevelopmental disorder mainly comprising neurological abnormalities such as intellectual disability/ developmental delay, motor delay, speech delay, and behavioural disorders and facial dysmorphisms. Intellectual disability was present in 16 of 17 individuals (3 severe, 2 moderate, 3 mild to moderate, 3 mild, 1 borderline and 4 unknown severity), while the remaining one had learning disability.

Functional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS.

This gene has already been associated with neurodevelopmental disorder in both OMIM (MIM #620489) and Gene2Phenotype ('limited' rating in the DD panel).
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.26 SPTSSA Achchuthan Shanmugasundram Classified gene: SPTSSA as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.26 SPTSSA Achchuthan Shanmugasundram Gene: sptssa has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.25 SPTSSA Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are two unrelated cases (with the same variant) in support of the association of this gene with the autosomal dominant spastic paraplegia. Although there is only one case with the autosomal recessive condition, homozygous knockout mouse model is available in support of the association. Functional evidence is also available for both homozygous and heterozygous variants.

Hence, the rating should be amber and the MOI should be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.
Childhood onset hereditary spastic paraplegia v4.25 SPTSSA Achchuthan Shanmugasundram Mode of inheritance for gene: SPTSSA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram edited their review of gene: SPTSSA: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram changed review comment from: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.

Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation.

Mice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration.
Sources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact (PMID:36718090).

Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation (PMID:36718090).

Mice model with homozygous ssSPTa null mutants are embryonic lethal (PMID:33662400). However, homozygous knockout of the functional equivalent ssSPTb had early onset ataxia and died prematurely, with evidence of axonic degeneration (PMID:26438849).

This gene has already been associated with relevant phenotypes in OMIM (MIMs #620416 & #620417).
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram edited their review of gene: SPTSSA: Changed publications to: 26438849, 33662400, 36718090
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram changed review comment from: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.
Sources: Literature; to: Two unrelated patients were identified with the same de novo missense heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous truncation variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.

Functional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in Drosophila, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA. The heterozygous p.Thr51Ile variant was shown to impact regulation more than the homozygous truncation variant, while the truncated region was previously shown to be important for ORMDL regulation.

Mice model with a homozygous knockout of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: Two unrelated patients were identified with the same heterozygous variant (p.Thr51Ile) and the third patient was identified with a homozygous variant (c.171_172del) in SPTSSA gene. All these patients were reported with a complex form of paediatric-onset hereditary spastic paraplegia associated with progressive motor impairment and spasticity and variable language/cognitive impact.
Sources: Literature
Childhood onset hereditary spastic paraplegia v4.24 SPTSSA Achchuthan Shanmugasundram gene: SPTSSA was added
gene: SPTSSA was added to Childhood onset hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: SPTSSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTSSA were set to 36718090
Phenotypes for gene: SPTSSA were set to Spastic paraplegia 90A, autosomal dominant, OMIM:620416; ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417
Review for gene: SPTSSA was set to AMBER
Added comment: Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 CR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CR2.
Cytopenia - NOT Fanconi anaemia v3.4 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: HYOU1.
Skeletal dysplasia v4.23 AXIN1 Achchuthan Shanmugasundram Classified gene: AXIN1 as Amber List (moderate evidence)
Skeletal dysplasia v4.23 AXIN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Skeletal dysplasia v4.23 AXIN1 Achchuthan Shanmugasundram Gene: axin1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v4.22 AXIN1 Achchuthan Shanmugasundram Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681
Skeletal dysplasia v4.21 AXIN1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AXIN1.
Skeletal dysplasia v4.21 AXIN1 Achchuthan Shanmugasundram reviewed gene: AXIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37582359; Phenotypes: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Classified gene: HYOU1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As listed in the review of Hannah Knight, there are three cases reported with biallelic HYOU1 variants and with phagocytic defects and/ or immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Gene: hyou1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.47 HYOU1 Achchuthan Shanmugasundram Phenotypes for gene: HYOU1 were changed from Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function; Immunodeficiency 59 and hypoglycemia, 233600 to ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v4.46 HYOU1 Achchuthan Shanmugasundram Publications for gene: HYOU1 were set to 32048120; 32086639; 27913302
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HYOU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HYOU1 Achchuthan Shanmugasundram reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Classified gene: HMOX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As listed in the review of Hannah Knight, there are more than three unrelated cases with biallelic HMOX1 variants reported with asplenia. In addition, recurrent infections, recurrent fever, generalized erythematous rash, hemolysis, inflammation, nephritis, and joint pain were reported in these cases. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.44 HMOX1 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v4.44 HMOX1 Achchuthan Shanmugasundram Phenotypes for gene: HMOX1 were changed from Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis to Heme oxygenase-1 deficiency, OMIM:614034; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis
Primary immunodeficiency or monogenic inflammatory bowel disease v4.43 HMOX1 Achchuthan Shanmugasundram Publications for gene: HMOX1 were set to 9884342; 21088618; 22023467; 26526137; 3306677
Primary immunodeficiency or monogenic inflammatory bowel disease v4.42 HMOX1 Achchuthan Shanmugasundram Added comment: Comment on publications: As listed in the review of Hannah Knight, there are more than three unrelated cases with biallelic HMOX1 variants reported with asplenia. In addition, recurrent infections, recurrent fever, generalized erythematous rash, hemolysis, inflammation, nephritis, and joint pain were reported in these cases. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.42 HMOX1 Achchuthan Shanmugasundram Publications for gene: HMOX1 were set to 9884342; 21088618
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 HMOX1 Achchuthan Shanmugasundram reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heme oxygenase-1 deficiency, OMIM:614034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 FCN3 Hannah Knight changed review comment from: PMID: 32634042 appears to show a new patient with biallelic variants - can't access paper however; to: PMID: 32634042 appears to show a new patient with biallelic variants - can't access paper however
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 FCN3 Hannah Knight reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32634042; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 CD81 Hannah Knight reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 35849269; Phenotypes: Immunodeficiency, common variable, 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 CD4 Hannah Knight reviewed gene: CD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33471124; Phenotypes: Immunodeficiency 79; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 TRAF3IP2 Hannah Knight reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34289170, 33825088, 33359359; Phenotypes: ?Candidiasis, familial, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 TFRC Hannah Knight reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32851577; Phenotypes: Immunodeficiency 46; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v3.4 SRP19 Hannah Knight gene: SRP19 was added
gene: SRP19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP19 were set to 36223592
Phenotypes for gene: SRP19 were set to Severe congenital neutropenia
Review for gene: SRP19 was set to AMBER
Added comment: PMID: 36223592 - a novel homozygous variant in SRP19 was identified in 2 related pedigrees with 5 patients affected (c.189+5G>A) + functional studies
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.4 SRPRA Hannah Knight gene: SRPRA was added
gene: SRPRA was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRPRA were set to 36223592
Phenotypes for gene: SRPRA were set to Severe congenital neutropenia
Review for gene: SRPRA was set to AMBER
Added comment: PMID: 36223592 - A novel heterozygous de novo variant in SRPRA was found in 1 pedigree with 1 patient (p.Gln464Glu) - results in an amino acid exchange (glutamine to glutamic acid, position 464) in an alpha helix loop close to the GTPase active center known to mediate interaction with the cognate-binding partner, SRP54 (known cause of SCN)
+ functional studies
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.4 SEC61A1 Hannah Knight gene: SEC61A1 was added
gene: SEC61A1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 32325141; 27392076
Phenotypes for gene: SEC61A1 were set to Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5
Review for gene: SEC61A1 was set to AMBER
Added comment: PMID: 32325141 - reported a patient with a de novo variant in this gene, presenting with severe congenital neutropenia and recurrent infections
PMID: 27392076 - neutropenia previously reported in a father and daughter with tubulointerstitial kidney disease due to a heterozygous SEC61A1 variant
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SEC61A1 Hannah Knight reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32325141; Phenotypes: Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SAMD9L Hannah Knight reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 31874111, 36969289; Phenotypes: SAMD9L-associated autoinflammatory disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Classified gene: IRF2BP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are four unrelated cases in support of the association of monoallelic IRF2BP2 variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 IRF2BP2 Achchuthan Shanmugasundram Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 IRF2BP2 Achchuthan Shanmugasundram reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency, common variable, 14, OMIM:617765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: OCRL.
Tag Q4_23_expert_review tag was added to gene: OCRL.
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16722554; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.21 OCRL Sarah Leigh Publications for gene: OCRL were set to 27159321; 25527826; 28334938; 20301621; 24357685; 33517444
Adult onset leukodystrophy v3.20 HMGCL Sarah Leigh Tag Q4_23_demote_amber tag was added to gene: HMGCL.
Tag Q4_23_expert_review tag was added to gene: HMGCL.
Adult onset leukodystrophy v3.20 HMGCL Sarah Leigh reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset leukodystrophy v3.20 HMGCL Sarah Leigh Publications for gene: HMGCL were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v3.19 HMGCL Sarah Leigh Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 to HMG-CoA lyase deficiency, OMIM:246450; 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520
Mitochondrial disorders v4.99 SLC52A3 Sarah Leigh Classified gene: SLC52A3 as Amber List (moderate evidence)
Mitochondrial disorders v4.99 SLC52A3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.99 SLC52A3 Sarah Leigh Gene: slc52a3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.98 SLC52A3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SLC52A3.
Tag Q4_23_MOI tag was added to gene: SLC52A3.
Mitochondrial disorders v4.98 SLC52A3 Sarah Leigh Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530; Brown-Vialetto-van Laere syndrome 1, MONDO:0024537
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh edited their review of gene: SLC52A3: Changed rating: GREEN
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh edited their review of gene: SLC52A3: Added comment: PMIDs 29053833 & 29193829 report a total of 11 unrelated cases of Brown-Vialetto-Van Laere syndrome 1 (OMIM:211530) carrying a total of 14 SLC52A3 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A3 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Nine of the SLC52A3 variants occur as either homozygotes or as compound heterozygotes in PMID: 29053833, a further five variants are seen as heterozygotes. The authors comment that the heterozygous individuals did not differ substantially in phenotype including age of presentation from the rest of the cohort of mutation-positive cases.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v4.97 SLC52A2 Sarah Leigh changed review comment from: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.; to: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of nine SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Mitochondrial disorders v4.97 SLC52A2 Sarah Leigh changed review comment from: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction.; to: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh Publications for gene: SLC52A3 were set to
DDG2P v3.73 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539; 23897642).
DDG2P v3.73 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SLC52A2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 REL Hannah Knight reviewed gene: REL: Rating: AMBER; Mode of pathogenicity: None; Publications: 34623332; Phenotypes: Immunodeficiency 92; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh edited their review of gene: SLC52A2: Added comment: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 POLD3 Hannah Knight gene: POLD3 was added
gene: POLD3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD3 were set to 37030525
Phenotypes for gene: POLD3 were set to Immunodeficiency with neurodevelopmental delay and hearing loss
Review for gene: POLD3 was set to AMBER
Added comment: PMID: 37030525 - homozygous POLD3 variant (p.Ile10Thr) in a consanguinous Lebanese family, presenting with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss
Sources: Literature
Cytopenia - NOT Fanconi anaemia v3.4 CXCR2 Achchuthan Shanmugasundram Phenotypes for gene: CXCR2 were changed from ?WHIM syndrome 2 to ?WHIM syndrome 2, OMIM:619407
Cytopenia - NOT Fanconi anaemia v3.3 CXCR2 Achchuthan Shanmugasundram Classified gene: CXCR2 as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v3.3 CXCR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases available in support of the association of biallelic CXCR2 variants to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Cytopenia - NOT Fanconi anaemia v3.3 CXCR2 Achchuthan Shanmugasundram Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v3.2 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2.
Cytopenia - NOT Fanconi anaemia v3.2 CXCR2 Achchuthan Shanmugasundram reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?WHIM syndrome 2, OMIM:619407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 POLD1 Hannah Knight reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140240; Phenotypes: Polymerase d 1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Classified gene: CXCR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with biallelic CXCR2 variants. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CXCR2 Achchuthan Shanmugasundram reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?WHIM syndrome 2, OMIM:619407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Classified gene: SLC52A2 as Amber List (moderate evidence)
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Gene: slc52a2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CR2 Achchuthan Shanmugasundram edited their review of gene: CR2: Changed phenotypes to: ?Immunodeficiency, common variable, 7, OMIM:614699
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CR2 Achchuthan Shanmugasundram Phenotypes for gene: CR2 were changed from Immunodeficiency, common variable, 7, 614699; Lupus; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); Isolated IgG subclass deficiency; hypogammaglobulinaemia; Recurrent infections; Predominantly Antibody Deficiencies to ?Immunodeficiency, common variable, 7, OMIM:614699
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Classified gene: CR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated cases in support of the association of CR2 to immunodeficiency. Hence, this gene can be promoted to Green in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Gene: cr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 CR2 Achchuthan Shanmugasundram reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency, common variable, 7, OMIM: 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.17 ACTC1 Achchuthan Shanmugasundram Classified gene: ACTC1 as Amber List (moderate evidence)
Arthrogryposis v5.17 ACTC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) available in support of the association of ACTC1 with distal arthrogryposis and hence this gene can be promoted to green rating in the next GMS review.
Arthrogryposis v5.17 ACTC1 Achchuthan Shanmugasundram Gene: actc1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v5.16 ACTC1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ACTC1.
Arthrogryposis v5.16 ACTC1 Achchuthan Shanmugasundram gene: ACTC1 was added
gene: ACTC1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 37457373
Phenotypes for gene: ACTC1 were set to distal arthrogryposis, MONDO:0019942
Review for gene: ACTC1 was set to GREEN
Added comment: Eight individuals from five unrelated families were identified with five different heterozygous missense variants in ACTC1 gene and they were reported with distal arthrogryposis. The clinical presentations included multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature.

This gene has been associated with cardiac phenotypes in both OMIM and Gene2Phenotype, but not yet with distal arthrogryposis in either resources.
Sources: Literature
Familial tumours of the nervous system v1.3 LZTFL1 Eleanor Williams Tag curated_removed tag was added to gene: LZTFL1.
Familial tumours of the nervous system v1.3 LZTR1 Eleanor Williams reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial tumours of the nervous system v1.3 LZTFL1 Eleanor Williams commented on gene: LZTFL1
Familial tumours of the nervous system v1.2 LZTR1 Eleanor Williams gene: LZTR1 was added
gene: LZTR1 was added to Familial tumours of the nervous system. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial tumours of the nervous system v1.2 LZTFL1 Eleanor Williams Source Expert Review Removed was added to LZTFL1.
Rating Changed from Green List (high evidence) to No List (delete)
Paediatric disorders - additional genes v3.5 TOR1AIP1 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: TOR1AIP1.
Paediatric disorders - additional genes v3.5 PLXND1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: PLXND1.
Paediatric disorders - additional genes v3.5 PAPPA2 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: PAPPA2.
Paediatric disorders - additional genes v3.5 FOXI3 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: FOXI3.
Paediatric disorders - additional genes v3.5 TOR1AIP1 Arina Puzriakova commented on gene: TOR1AIP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v3.5 PLXND1 Arina Puzriakova reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes v3.5 PAPPA2 Arina Puzriakova edited their review of gene: PAPPA2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Paediatric disorders - additional genes v3.5 FOXI3 Arina Puzriakova commented on gene: FOXI3: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v3.4 TOR1AIP1 Arina Puzriakova Source Expert Review Green was added to TOR1AIP1.
Source NHS GMS was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v3.4 PLXND1 Arina Puzriakova Source Expert Review Green was added to PLXND1.
Source NHS GMS was added to PLXND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v3.4 PAPPA2 Arina Puzriakova Source Expert Review Green was added to PAPPA2.
Source NHS GMS was added to PAPPA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v3.4 FOXI3 Arina Puzriakova Source Expert Review Green was added to FOXI3.
Source NHS GMS was added to FOXI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v3.37 TBX20 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TBX20.
Tag Q2_23_NHS_review was removed from gene: TBX20.
Paediatric or syndromic cardiomyopathy v3.37 RRAGC Arina Puzriakova Tag Q2_23_promote_green was removed from gene: RRAGC.
Tag Q2_23_NHS_review was removed from gene: RRAGC.
Paediatric or syndromic cardiomyopathy v3.37 TBX20 Arina Puzriakova reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.37 RRAGC Arina Puzriakova edited their review of gene: RRAGC: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.36 TBX20 Arina Puzriakova Source NHS GMS was added to TBX20.
Source Expert Review Green was added to TBX20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v3.36 RRAGC Arina Puzriakova Source Expert Review Green was added to RRAGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v3.13 GBA James Polke reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TLR7 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TLR7.
Early onset or syndromic epilepsy v4.115 UBAP2L Arina Puzriakova Tag Q1_23_promote_green was removed from gene: UBAP2L.
Early onset or syndromic epilepsy v4.115 TRA2B Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TRA2B.
Early onset or syndromic epilepsy v4.115 STXBP1 Arina Puzriakova Phenotypes for gene: STXBP1 were changed from Developmental and epileptic encephalopathy 4, OMIM:612164; developmental and epileptic encephalopathy, 4, MONDO:0012812 to Developmental and epileptic encephalopathy 4, OMIM:612164
Early onset or syndromic epilepsy v4.114 STXBP1 Arina Puzriakova Tag Q1_23_MOI was removed from gene: STXBP1.
Early onset or syndromic epilepsy v4.114 ST3GAL3 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Early onset or syndromic epilepsy v4.114 SLC39A8 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SLC39A8.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TBX1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TBX1.
Tag Q1_23_NHS_review was removed from gene: TBX1.
Early onset or syndromic epilepsy v4.114 SLC32A1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SLC32A1.
Early onset or syndromic epilepsy v4.114 SATB2 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SATB2.
Early onset or syndromic epilepsy v4.114 SARS Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SARS.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IRF7 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: IRF7.
Early onset or syndromic epilepsy v4.114 RHEB Arina Puzriakova Tag Q2_23_promote_green was removed from gene: RHEB.
Early onset or syndromic epilepsy v4.114 RAC3 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: RAC3.
Early onset or syndromic epilepsy v4.114 PPFIBP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
Early onset or syndromic epilepsy v4.114 PLXNA1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLXNA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IKZF2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: IKZF2.
Early onset or syndromic epilepsy v4.114 PLK1 Arina Puzriakova Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to developmental and epileptic encephalopathy, MONDO:0100062
Early onset or syndromic epilepsy v4.113 PLK1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLK1.
Early onset or syndromic epilepsy v4.113 OTUD7A Arina Puzriakova Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability to developmental and epileptic encephalopathy, MONDO:0100062
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 C2orf69 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: C2orf69.
Early onset or syndromic epilepsy v4.112 OTUD7A Arina Puzriakova Tag Q2_23_promote_green was removed from gene: OTUD7A.
Early onset or syndromic epilepsy v4.112 NUP214 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: NUP214.
Early onset or syndromic epilepsy v4.112 NEDD4L Arina Puzriakova Tag Q1_23_promote_green was removed from gene: NEDD4L.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 ALPK1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ALPK1.
Early onset or syndromic epilepsy v4.112 MED11 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MED11.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TLR7 Arina Puzriakova edited their review of gene: TLR7: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TBX1 Arina Puzriakova commented on gene: TBX1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IRF7 Arina Puzriakova edited their review of gene: IRF7: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 IKZF2 Arina Puzriakova edited their review of gene: IKZF2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 C2orf69 Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 ALPK1 Arina Puzriakova edited their review of gene: ALPK1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v4.112 MAGI2 Arina Puzriakova Tag disputed tag was added to gene: MAGI2.
Early onset or syndromic epilepsy v4.112 MAGI2 Arina Puzriakova Tag Q1_23_demote_red was removed from gene: MAGI2.
Early onset or syndromic epilepsy v4.112 KPTN Arina Puzriakova Tag Q1_23_promote_green was removed from gene: KPTN.
Early onset or syndromic epilepsy v4.112 KLHL20 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KLHL20.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 TLR7 Achchuthan Shanmugasundram Source Expert Review Green was added to TLR7.
Source NHS GMS was added to TLR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 TBX1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBX1.
Source NHS GMS was added to TBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 IRF7 Achchuthan Shanmugasundram Source Expert Review Green was added to IRF7.
Source NHS GMS was added to IRF7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 IKZF2 Achchuthan Shanmugasundram Source Expert Review Green was added to IKZF2.
Source NHS GMS was added to IKZF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 C2orf69 Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69.
Source NHS GMS was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 ALPK1 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK1.
Source NHS GMS was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.112 GRM7 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: GRM7.
Early onset or syndromic epilepsy v4.112 GRIA2 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GRIA2.
Intellectual disability v5.306 GCSH Arina Puzriakova Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423; Glycine encephalopathy; Transient neonatal hyperglycinemia
Early onset or syndromic epilepsy v4.112 GCSH Arina Puzriakova Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423; Glycine encephalopathy; Transient neonatal hyperglycinemia
Likely inborn error of metabolism - targeted testing not possible v4.52 GCSH Arina Puzriakova Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423; Glycine encephalopathy; Transient neonatal hyperglycinemia
Congenital disorders of glycosylation v4.3 ST3GAL3 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Congenital disorders of glycosylation v4.3 ST3GAL3 Arina Puzriakova edited their review of gene: ST3GAL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Early onset or syndromic epilepsy v4.111 GCSH Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GCSH.
Early onset or syndromic epilepsy v4.111 GABRB1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GABRB1.
Congenital disorders of glycosylation v4.2 ST3GAL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL3.
Source NHS GMS was added to ST3GAL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.111 FRMD5 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: FRMD5.
Early onset or syndromic epilepsy v4.111 FOXRED1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: FOXRED1.
Early onset or syndromic epilepsy v4.111 FGFR3 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: FGFR3.
Early onset or syndromic epilepsy v4.111 EXT2 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: EXT2.
Early onset or syndromic epilepsy v4.111 ENTPD1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ENTPD1.
Early onset or syndromic epilepsy v4.111 DPH5 Arina Puzriakova Phenotypes for gene: DPH5 were changed from DPH5-related neurodevelopmental disorder to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
Early onset or syndromic epilepsy v4.110 DPH5 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: DPH5.
Early onset or syndromic epilepsy v4.110 DOLK Arina Puzriakova Tag watchlist was removed from gene: DOLK.
Tag Q1_23_promote_green was removed from gene: DOLK.
Early onset or syndromic epilepsy v4.110 DEPDC5 Arina Puzriakova Tag Q1_23_MOI was removed from gene: DEPDC5.
Early onset or syndromic epilepsy v4.110 CUX2 Arina Puzriakova Tag Q1_23_MOI was removed from gene: CUX2.
Tag Q1_23_NHS_review was removed from gene: CUX2.
Early onset or syndromic epilepsy v4.110 CPLX1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CPLX1.
Early onset or syndromic epilepsy v4.110 CLDN5 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CLDN5.
Early onset or syndromic epilepsy v4.110 CHD4 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CHD4.
Early onset or syndromic epilepsy v4.110 CAPRIN1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CAPRIN1.
Early onset or syndromic epilepsy v4.110 C2orf69 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: C2orf69.
Early onset or syndromic epilepsy v4.110 BAP1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: BAP1.
Early onset or syndromic epilepsy v4.110 ATP5O Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ATP5O.
Likely inborn error of metabolism - targeted testing not possible v4.51 SPG7 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: SPG7.
Early onset or syndromic epilepsy v4.110 ASXL3 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ASXL3.
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PNPLA2.
Likely inborn error of metabolism - targeted testing not possible v4.51 OGDH Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: OGDH.
Likely inborn error of metabolism - targeted testing not possible v4.51 LETM1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: LETM1.
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: GCSH.
Likely inborn error of metabolism - targeted testing not possible v4.51 CRLS1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: CRLS1.
Likely inborn error of metabolism - targeted testing not possible v4.51 ATP5O Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ATP5O.
Likely inborn error of metabolism - targeted testing not possible v4.51 SPG7 Arina Puzriakova reviewed gene: SPG7: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Arina Puzriakova reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 OGDH Arina Puzriakova reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 LETM1 Arina Puzriakova reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 CRLS1 Arina Puzriakova reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 ATP5O Arina Puzriakova commented on gene: ATP5O: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism - targeted testing not possible v4.50 SPG7 Achchuthan Shanmugasundram Mode of inheritance for gene SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.50 PNPLA2 Achchuthan Shanmugasundram Source NHS GMS was added to PNPLA2.
Source Expert Review Green was added to PNPLA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 OGDH Achchuthan Shanmugasundram Source Expert Review Green was added to OGDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 LETM1 Achchuthan Shanmugasundram Source NHS GMS was added to LETM1.
Source Expert Review Green was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 GCSH Achchuthan Shanmugasundram Source Expert Review Green was added to GCSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 CRLS1 Achchuthan Shanmugasundram Source NHS GMS was added to CRLS1.
Source Expert Review Green was added to CRLS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 ATP5O Achchuthan Shanmugasundram Source NHS GMS was added to ATP5O.
Source Expert Review Green was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.110 CPA6 Arina Puzriakova Tag for-review was removed from gene: CPA6.
Tag Q2_23_demote_red was removed from gene: CPA6.
Tag Q2_23_NHS_review was removed from gene: CPA6.
Tag Q2_23_expert_review was removed from gene: CPA6.
Tag refuted tag was added to gene: CPA6.
Early onset or syndromic epilepsy v4.110 UBAP2L Arina Puzriakova reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 TRA2B Arina Puzriakova reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 STXBP1 Arina Puzriakova reviewed gene: STXBP1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 ST3GAL3 Arina Puzriakova reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 SLC39A8 Arina Puzriakova reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 SLC32A1 Arina Puzriakova reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 SATB2 Arina Puzriakova reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 SARS Arina Puzriakova commented on gene: SARS: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v4.110 RHEB Arina Puzriakova edited their review of gene: RHEB: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 RAC3 Arina Puzriakova edited their review of gene: RAC3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 PPFIBP1 Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 PLXNA1 Arina Puzriakova reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 PLK1 Arina Puzriakova reviewed gene: PLK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 OTUD7A Arina Puzriakova reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 NUP214 Arina Puzriakova reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 NEDD4L Arina Puzriakova reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 MED11 Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 MAGI2 Arina Puzriakova reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v4.110 KPTN Arina Puzriakova reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 KLHL20 Arina Puzriakova edited their review of gene: KLHL20: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 GRM7 Arina Puzriakova reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 GRIA2 Arina Puzriakova reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 GCSH Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 GABRB1 Arina Puzriakova reviewed gene: GABRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 FRMD5 Arina Puzriakova commented on gene: FRMD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v4.110 FOXRED1 Arina Puzriakova reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 FGFR3 Arina Puzriakova reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 EXT2 Arina Puzriakova reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 ENTPD1 Arina Puzriakova reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 DPH5 Arina Puzriakova reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 DOLK Arina Puzriakova reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 DEPDC5 Arina Puzriakova reviewed gene: DEPDC5: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 CUX2 Arina Puzriakova reviewed gene: CUX2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 CPLX1 Arina Puzriakova reviewed gene: CPLX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 CPA6 Arina Puzriakova reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v4.110 CLDN5 Arina Puzriakova reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.110 CHD4 Arina Puzriakova reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 CAPRIN1 Arina Puzriakova reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 C2orf69 Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.110 BAP1 Arina Puzriakova reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v4.110 ATP5O Arina Puzriakova commented on gene: ATP5O: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v4.110 ASXL3 Arina Puzriakova reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 SOX6 Eleanor Williams Tag Q2_23_promote_green was removed from gene: SOX6.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 RSPRY1 Eleanor Williams Tag Q2_23_promote_green was removed from gene: RSPRY1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 PRRX1 Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRRX1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 NFIX Eleanor Williams Tag Q2_23_promote_green was removed from gene: NFIX.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 MAN2B1 Eleanor Williams Tag Q2_23_promote_green was removed from gene: MAN2B1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 KAT6B Eleanor Williams Tag Q2_23_promote_green was removed from gene: KAT6B.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 IL6ST Eleanor Williams Tag Q2_23_promote_green was removed from gene: IL6ST.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 IFT140 Eleanor Williams Tag Q2_23_promote_green was removed from gene: IFT140.
Early onset or syndromic epilepsy v4.109 UBAP2L Arina Puzriakova Source NHS GMS was added to UBAP2L.
Source Expert Review Green was added to UBAP2L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 TRA2B Arina Puzriakova Source NHS GMS was added to TRA2B.
Source Expert Review Green was added to TRA2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 STXBP1 Arina Puzriakova Mode of inheritance for gene STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.109 ST3GAL3 Arina Puzriakova Source Expert Review Green was added to ST3GAL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 SLC39A8 Arina Puzriakova Source NHS GMS was added to SLC39A8.
Source Expert Review Green was added to SLC39A8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FGF9 Eleanor Williams Tag Q2_23_promote_green was removed from gene: FGF9.
Early onset or syndromic epilepsy v4.109 SLC32A1 Arina Puzriakova Source NHS GMS was added to SLC32A1.
Source Expert Review Green was added to SLC32A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 SATB2 Arina Puzriakova Source NHS GMS was added to SATB2.
Source Expert Review Green was added to SATB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 SARS Arina Puzriakova Source NHS GMS was added to SARS.
Source Expert Review Green was added to SARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 RHEB Arina Puzriakova Source NHS GMS was added to RHEB.
Source Expert Review Green was added to RHEB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 RAC3 Arina Puzriakova Source NHS GMS was added to RAC3.
Source Expert Review Green was added to RAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 PPFIBP1 Arina Puzriakova Source NHS GMS was added to PPFIBP1.
Source Expert Review Green was added to PPFIBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 PLXNA1 Arina Puzriakova Source NHS GMS was added to PLXNA1.
Source Expert Review Green was added to PLXNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 PLK1 Arina Puzriakova Source NHS GMS was added to PLK1.
Source Expert Review Green was added to PLK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 OTUD7A Arina Puzriakova Source NHS GMS was added to OTUD7A.
Source Expert Review Green was added to OTUD7A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 NUP214 Arina Puzriakova Source NHS GMS was added to NUP214.
Source Expert Review Green was added to NUP214.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 NEDD4L Arina Puzriakova Source Expert Review Green was added to NEDD4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 MED11 Arina Puzriakova Source NHS GMS was added to MED11.
Source Expert Review Green was added to MED11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 MAGI2 Arina Puzriakova Source Expert Review Red was added to MAGI2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v4.109 KPTN Arina Puzriakova Source Expert Review Green was added to KPTN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 KLHL20 Arina Puzriakova Source NHS GMS was added to KLHL20.
Source Expert Review Green was added to KLHL20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 GRM7 Arina Puzriakova Source NHS GMS was added to GRM7.
Source Expert Review Green was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 GRIA2 Arina Puzriakova Source Expert Review Green was added to GRIA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 GCSH Arina Puzriakova Source Expert Review Green was added to GCSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 GABRB1 Arina Puzriakova Source Expert Review Green was added to GABRB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FBXO11 Eleanor Williams Tag Q2_23_promote_green was removed from gene: FBXO11.
Early onset or syndromic epilepsy v4.109 FRMD5 Arina Puzriakova Source NHS GMS was added to FRMD5.
Source Expert Review Green was added to FRMD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 FOXRED1 Arina Puzriakova Source Expert Review Green was added to FOXRED1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 FGFR3 Arina Puzriakova Source Expert Review Green was added to FGFR3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 EXT2 Arina Puzriakova Source NHS GMS was added to EXT2.
Source Expert Review Green was added to EXT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 ENTPD1 Arina Puzriakova Source NHS GMS was added to ENTPD1.
Source Expert Review Green was added to ENTPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 DPH5 Arina Puzriakova Source NHS GMS was added to DPH5.
Source Expert Review Green was added to DPH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 DOLK Arina Puzriakova Source Expert Review Green was added to DOLK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 DEPDC5 Arina Puzriakova Mode of inheritance for gene DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.109 CUX2 Arina Puzriakova Mode of inheritance for gene CUX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.109 CPLX1 Arina Puzriakova Source NHS GMS was added to CPLX1.
Source Expert Review Green was added to CPLX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 CPA6 Arina Puzriakova Source Expert Review Red was added to CPA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v4.109 CLDN5 Arina Puzriakova Source NHS GMS was added to CLDN5.
Source Expert Review Green was added to CLDN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 CHD4 Arina Puzriakova Source NHS GMS was added to CHD4.
Source Expert Review Green was added to CHD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 CAPRIN1 Arina Puzriakova Source NHS GMS was added to CAPRIN1.
Source Expert Review Green was added to CAPRIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 C2orf69 Arina Puzriakova Source NHS GMS was added to C2orf69.
Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 BAP1 Arina Puzriakova Source NHS GMS was added to BAP1.
Source Expert Review Green was added to BAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FBN1 Eleanor Williams Tag Q2_23_promote_green was removed from gene: FBN1.
Early onset or syndromic epilepsy v4.109 ATP5O Arina Puzriakova Source Expert Review Green was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.109 ASXL3 Arina Puzriakova Source NHS GMS was added to ASXL3.
Source Expert Review Green was added to ASXL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 CDK13 Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDK13.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 BCL11B Eleanor Williams Tag Q2_23_promote_green was removed from gene: BCL11B.
Tag Q2_23_NHS_review was removed from gene: BCL11B.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 ARID1B Eleanor Williams Tag Q2_23_promote_green was removed from gene: ARID1B.
Malformations of cortical development v4.8 COL4A2 Nour Elkhateeb gene: COL4A2 was added
gene: COL4A2 was added to Malformations of cortical development. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to 30413629; 36324412; 22333902
Phenotypes for gene: COL4A2 were set to Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia
Added comment: COL4A2 variants are commonly associated with cortical malformations (Schizencephaly, porencephaly, polymicrogyria, focal cortical dysplasia, and nodular heterotopia) in literature.
COL4A2 variants are associated with porencephaly. however, it is not included in the R87 Cerebral malformation panel (indications as per the national genomic test directory include "
Cerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause"
Sources: Literature
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 AHDC1 Eleanor Williams Tag Q2_23_promote_green was removed from gene: AHDC1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 ADAMTSL4 Eleanor Williams Tag Q2_23_promote_green was removed from gene: ADAMTSL4.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 SOX6 Eleanor Williams edited their review of gene: SOX6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 RSPRY1 Eleanor Williams edited their review of gene: RSPRY1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 PRRX1 Eleanor Williams edited their review of gene: PRRX1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 NFIX Eleanor Williams edited their review of gene: NFIX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 MAN2B1 Eleanor Williams reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 KAT6B Eleanor Williams edited their review of gene: KAT6B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 IL6ST Eleanor Williams reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 IFT140 Eleanor Williams edited their review of gene: IFT140: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FGF9 Eleanor Williams edited their review of gene: FGF9: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FBXO11 Eleanor Williams reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FBN1 Eleanor Williams edited their review of gene: FBN1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 CDK13 Eleanor Williams reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 BCL11B Eleanor Williams reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 ARID1B Eleanor Williams reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 AHDC1 Eleanor Williams edited their review of gene: AHDC1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 ADAMTSL4 Eleanor Williams edited their review of gene: ADAMTSL4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary diffuse gastric cancer v1.3 CTNNA1 Arina Puzriakova reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 SOX6 Eleanor Williams Source Expert Review Green was added to SOX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 RSPRY1 Eleanor Williams Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 PRRX1 Eleanor Williams Source Expert Review Green was added to PRRX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 NFIX Eleanor Williams Source Expert Review Green was added to NFIX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 MAN2B1 Eleanor Williams Source Expert Review Green was added to MAN2B1.
Source NHS GMS was added to MAN2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 KAT6B Eleanor Williams Source Expert Review Green was added to KAT6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 IL6ST Eleanor Williams Source Expert Review Green was added to IL6ST.
Source NHS GMS was added to IL6ST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 IFT140 Eleanor Williams Source Expert Review Green was added to IFT140.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 FGF9 Eleanor Williams Source Expert Review Green was added to FGF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 FBXO11 Eleanor Williams Source Expert Review Green was added to FBXO11.
Source NHS GMS was added to FBXO11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 FBN1 Eleanor Williams Source Expert Review Green was added to FBN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 CDK13 Eleanor Williams Source Expert Review Green was added to CDK13.
Source NHS GMS was added to CDK13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 BCL11B Eleanor Williams Source Expert Review Green was added to BCL11B.
Source NHS GMS was added to BCL11B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 ARID1B Eleanor Williams Source Expert Review Green was added to ARID1B.
Source NHS GMS was added to ARID1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 AHDC1 Eleanor Williams Source Expert Review Green was added to AHDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 ADAMTSL4 Eleanor Williams Source Expert Review Green was added to ADAMTSL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary diffuse gastric cancer v1.2 CTNNA1 Arina Puzriakova gene: CTNNA1 was added
gene: CTNNA1 was added to CDH1-related cancer syndrome. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development v4.8 COL4A1 Nour Elkhateeb gene: COL4A1 was added
gene: COL4A1 was added to Malformations of cortical development. Sources: Literature
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A1 were set to 30837194; 37157232; 30413629; 36324412
Phenotypes for gene: COL4A1 were set to Malformations of cortical development; Schizencephaly; porencephaly; polymicrogyria; focal cortical dysplasia; nodular heterotopia
Review for gene: COL4A1 was set to GREEN
Added comment: COL4A1 variants are commonly associated with cortical malformations (Schizencephaly, porencephaly, polymicrogyria, focal cortical dysplasia, and nodular heterotopia) in literature. further information available on Genreviews Plaisier E, Ronco P. COL4A1-Related Disorders. 2009 Jun 25 [Updated 2016 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK7046/
COL4A1 variants are associated with porencephaly. however, it is not included in the R87 Cerebral malformation panel (indications as per the national genomic test directory include "
Cerebral malformation such as cortical malformation or porencephaly with features suggestive of a monogenic cause"
Sources: Literature
Intellectual disability v5.305 ZNF292 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ZNF292.
Tag Q1_23_NHS_review was removed from gene: ZNF292.
Intellectual disability v5.305 ZMYND8 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ZMYND8.
Intellectual disability v5.305 ZMYM3 Arina Puzriakova Phenotypes for gene: ZMYM3 were changed from X-linked mental retardation to Intellectual developmental disorder, X-linked 112, OMIM:301111
Skeletal ciliopathies v3.11 PRKACB Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRKACB.
Skeletal ciliopathies v3.11 PRKACA Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRKACA.
Intellectual disability v5.304 ZMYM3 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ZMYM3.
Skeletal ciliopathies v3.11 INTU Eleanor Williams Tag Q2_23_promote_green was removed from gene: INTU.
Skeletal ciliopathies v3.11 PRKACB Eleanor Williams reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal ciliopathies v3.11 PRKACA Eleanor Williams reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal ciliopathies v3.11 INTU Eleanor Williams reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v3.10 PRKACB Eleanor Williams Source Expert Review Green was added to PRKACB.
Source NHS GMS was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v3.10 PRKACA Eleanor Williams Source Expert Review Green was added to PRKACA.
Source NHS GMS was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v3.10 INTU Eleanor Williams Source Expert Review Green was added to INTU.
Source NHS GMS was added to INTU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.37 OBSCN Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO2 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO1 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 FLAD1 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 DGUOK Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 COQ8A Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 COQ4 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 CHKB Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 AMPD1 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Rhabdomyolysis and metabolic muscle disorders v3.37 MLIP Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.
Intellectual disability v5.304 WIPI2 Arina Puzriakova Phenotypes for gene: WIPI2 were changed from ?Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453
Limb disorders v4.11 PRKACA Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRKACA.
Intellectual disability v5.303 WIPI2 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: WIPI2.
Limb disorders v4.11 GNAS Eleanor Williams Tag Q4_22_MOI was removed from gene: GNAS.
Limb disorders v4.11 CDX2 Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDX2.
Limb disorders v4.11 PRKACA Eleanor Williams reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders v4.11 GNAS Eleanor Williams reviewed gene: GNAS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v4.11 CDX2 Eleanor Williams reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v4.108 UBAP2L Arina Puzriakova Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494
Limb disorders v4.10 PRKACA Eleanor Williams Source NHS GMS was added to PRKACA.
Source Expert Review Green was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v4.10 GNAS Eleanor Williams Source NHS GMS was added to GNAS.
Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v4.10 CDX2 Eleanor Williams Source NHS GMS was added to CDX2.
Source Expert Review Green was added to CDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.303 UBAP2L Arina Puzriakova Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494
Intellectual disability v5.302 UBAP2L Arina Puzriakova Tag Q1_23_promote_green was removed from gene: UBAP2L.
Intellectual disability v5.302 TRA2B Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TRA2B.
Intellectual disability v5.302 TMEM147 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TMEM147.
Intellectual disability v5.302 TCEAL1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TCEAL1.
Intellectual disability v5.302 TAF4 Arina Puzriakova Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to Intellectual developmental disorder, autosomal dominant 73, OMIM:620450
Intellectual disability v5.301 TAF4 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TAF4.
Intellectual disability v5.301 TAF2 Arina Puzriakova Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, 615599 to Mental retardation, autosomal recessive 40, OMIM:615599
Intellectual disability v5.300 TAF2 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TAF2.
Intellectual disability v5.300 SUFU Arina Puzriakova Tag watchlist_moi was removed from gene: SUFU.
Tag Q4_22_MOI was removed from gene: SUFU.
Tag Q4_22_promote_green was removed from gene: SUFU.
Tag Q4_22_expert_review was removed from gene: SUFU.
Rhabdomyolysis and metabolic muscle disorders v3.37 DGUOK Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DGUOK.
Tag Q3_23_NHS_review was removed from gene: DGUOK.
Intellectual disability v5.300 STXBP1 Arina Puzriakova Tag Q1_23_MOI was removed from gene: STXBP1.
Intellectual disability v5.300 SLC32A1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SLC32A1.
Intellectual disability v5.300 SHANK1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SHANK1.
Rhabdomyolysis and metabolic muscle disorders v3.37 OBSCN Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: OBSCN.
Tag Q3_23_NHS_review was removed from gene: OBSCN.
Intellectual disability v5.300 SEMA6B Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SEMA6B.
Intellectual disability v5.300 SARS Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SARS.
Intellectual disability v5.300 ROR2 Arina Puzriakova Tag Q4_22_demote_red was removed from gene: ROR2.
Tag Q4_22_NHS_review was removed from gene: ROR2.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MT-CO2.
Tag Q3_23_NHS_review was removed from gene: MT-CO2.
Intellectual disability v5.300 ROBO1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ROBO1.
Intellectual disability v5.300 RBSN Arina Puzriakova Tag Q1_23_promote_green was removed from gene: RBSN.
Intellectual disability v5.300 PRKAR1B Arina Puzriakova Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
Intellectual disability v5.299 PRKAR1B Arina Puzriakova Tag watchlist was removed from gene: PRKAR1B.
Tag Q2_23_promote_green was removed from gene: PRKAR1B.
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MT-CO1.
Tag Q3_23_NHS_review was removed from gene: MT-CO1.
Childhood onset hereditary spastic paraplegia v4.23 PPFIBP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
Tag Q4_23_promote_green tag was added to gene: PPFIBP1.
Severe microcephaly v4.37 PPFIBP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
Tag Q4_23_promote_green tag was added to gene: PPFIBP1.
Rhabdomyolysis and metabolic muscle disorders v3.37 FLAD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: FLAD1.
Tag Q3_23_NHS_review was removed from gene: FLAD1.
White matter disorders and cerebral calcification - narrow panel v3.20 PPFIBP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
Tag Q4_23_promote_green tag was added to gene: PPFIBP1.
White matter disorders and cerebral calcification - narrow panel v3.20 PPFIBP1 Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107
White matter disorders and cerebral calcification - narrow panel v3.20 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber
Q2_23_promote_green tags were added to gene: PPFIBP1.
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 30214071
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Penetrance for gene: PPFIBP1 were set to Complete
Childhood onset hereditary spastic paraplegia v4.23 PPFIBP1 Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107
Childhood onset hereditary spastic paraplegia v4.23 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,Expert Review Amber
Q2_23_promote_green tags were added to gene: PPFIBP1.
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 30214071
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Penetrance for gene: PPFIBP1 were set to Complete
Severe microcephaly v4.37 PPFIBP1 Arina Puzriakova Entity copied from Early onset or syndromic epilepsy v4.107
Severe microcephaly v4.37 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to Severe microcephaly. Sources: Literature,Expert Review Amber
Q2_23_promote_green tags were added to gene: PPFIBP1.
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 30214071
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Penetrance for gene: PPFIBP1 were set to Complete
Rhabdomyolysis and metabolic muscle disorders v3.37 COQ8A Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: COQ8A.
Tag Q3_23_NHS_review was removed from gene: COQ8A.
Rhabdomyolysis and metabolic muscle disorders v3.37 COQ4 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: COQ4.
Tag Q3_23_NHS_review was removed from gene: COQ4.
Rhabdomyolysis and metabolic muscle disorders v3.37 CHKB Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CHKB.
Tag Q3_23_NHS_review was removed from gene: CHKB.
Rhabdomyolysis and metabolic muscle disorders v3.37 AMPD1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AMPD1.
Tag Q3_23_NHS_review was removed from gene: AMPD1.
Rhabdomyolysis and metabolic muscle disorders v3.37 MLIP Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: MLIP.
Rhabdomyolysis and metabolic muscle disorders v3.37 OBSCN Eleanor Williams edited their review of gene: OBSCN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO2 Eleanor Williams reviewed gene: MT-CO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Rhabdomyolysis and metabolic muscle disorders v3.37 MT-CO1 Eleanor Williams reviewed gene: MT-CO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Rhabdomyolysis and metabolic muscle disorders v3.37 MLIP Eleanor Williams reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 FLAD1 Eleanor Williams reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 DGUOK Eleanor Williams reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 COQ8A Eleanor Williams reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 COQ4 Eleanor Williams reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 CHKB Eleanor Williams reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.37 AMPD1 Eleanor Williams reviewed gene: AMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v3.36 OBSCN Achchuthan Shanmugasundram Source Expert Review Green was added to OBSCN.
Source NHS GMS was added to OBSCN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 MT-CO2 Achchuthan Shanmugasundram Source Expert Review Green was added to MT-CO2.
Source NHS GMS was added to MT-CO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 MT-CO1 Achchuthan Shanmugasundram Source Expert Review Green was added to MT-CO1.
Source NHS GMS was added to MT-CO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 MLIP Achchuthan Shanmugasundram Source Expert Review Green was added to MLIP.
Source NHS GMS was added to MLIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 FLAD1 Achchuthan Shanmugasundram Source Expert Review Green was added to FLAD1.
Source NHS GMS was added to FLAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 DGUOK Achchuthan Shanmugasundram Source Expert Review Green was added to DGUOK.
Source NHS GMS was added to DGUOK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 COQ8A Achchuthan Shanmugasundram Source Expert Review Green was added to COQ8A.
Source NHS GMS was added to COQ8A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 COQ4 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4.
Source NHS GMS was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 CHKB Achchuthan Shanmugasundram Source Expert Review Green was added to CHKB.
Source NHS GMS was added to CHKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders v3.36 AMPD1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMPD1.
Source NHS GMS was added to AMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v4.8 RAC3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Malformations of cortical development v4.8 RAC3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Malformations of cortical development v4.8 SLC35A2 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC35A2.
Skeletal dysplasia v4.20 KIF24 Eleanor Williams Tag Q4_22_promote_green was removed from gene: KIF24.
Skeletal dysplasia v4.20 GPX4 Eleanor Williams Tag Q2_23_promote_green was removed from gene: GPX4.
Skeletal dysplasia v4.20 GNAS Eleanor Williams Tag Q4_22_MOI was removed from gene: GNAS.
Skeletal dysplasia v4.20 FGF9 Eleanor Williams Tag Q2_23_promote_green was removed from gene: FGF9.
Skeletal dysplasia v4.20 DDRGK1 Eleanor Williams Tag Q1_23_promote_green was removed from gene: DDRGK1.
Skeletal dysplasia v4.20 KIF24 Eleanor Williams reviewed gene: KIF24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v4.20 GPX4 Eleanor Williams edited their review of gene: GPX4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v4.20 GNAS Eleanor Williams edited their review of gene: GNAS: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v4.20 FGF9 Eleanor Williams edited their review of gene: FGF9: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v4.20 DDRGK1 Eleanor Williams reviewed gene: DDRGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development v4.8 RAC3 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: RAC3.
Skeletal dysplasia v4.19 KIF24 Eleanor Williams Source NHS GMS was added to KIF24.
Source Expert Review Green was added to KIF24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v4.19 GPX4 Eleanor Williams Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v4.19 GNAS Eleanor Williams Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v4.19 FGF9 Eleanor Williams Source Expert Review Green was added to FGF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v4.19 DDRGK1 Eleanor Williams Source NHS GMS was added to DDRGK1.
Source Expert Review Green was added to DDRGK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v4.8 DEPDC5 Achchuthan Shanmugasundram Tag Q1_23_MOI was removed from gene: DEPDC5.
Malformations of cortical development v4.8 SLC35A2 Eleanor Williams reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Malformations of cortical development v4.8 RAC3 Eleanor Williams reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development v4.8 DEPDC5 Eleanor Williams reviewed gene: DEPDC5: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Malformations of cortical development v4.7 SLC35A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A2.
Source NHS GMS was added to SLC35A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v4.7 RAC3 Achchuthan Shanmugasundram Source Expert Review Green was added to RAC3.
Source NHS GMS was added to RAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Malformations of cortical development v4.7 DEPDC5 Achchuthan Shanmugasundram Mode of inheritance for gene DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Distal myopathies v3.14 ADSSL1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ADSSL1.
Distal myopathies v3.14 ADSSL1 Eleanor Williams reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Distal myopathies v3.13 ADSSL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ADSSL1.
Source NHS GMS was added to ADSSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v3.19 ENTPD1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ENTPD1.
White matter disorders and cerebral calcification - narrow panel v3.19 CLDN5 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: CLDN5.
Intellectual disability v5.299 PPFIBP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
Intellectual disability v5.299 POU3F2 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: POU3F2.
Intellectual disability v5.299 PLXNA1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLXNA1.
Intellectual disability v5.299 PLK1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLK1.
White matter disorders and cerebral calcification - narrow panel v3.19 C2orf69 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: C2orf69.
Intellectual disability v5.299 PAX6 Arina Puzriakova Tag Q1_23_demote_red was removed from gene: PAX6.
Tag Q1_23_NHS_review was removed from gene: PAX6.
Intellectual disability v5.299 PAN2 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: PAN2.
White matter disorders and cerebral calcification - narrow panel v3.19 ENTPD1 Eleanor Williams reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v3.19 CLDN5 Eleanor Williams reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
White matter disorders and cerebral calcification - narrow panel v3.19 C2orf69 Eleanor Williams reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.299 OTUD7A Arina Puzriakova Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
Intellectual disability v5.298 OTUD7A Arina Puzriakova Tag Q2_23_promote_green was removed from gene: OTUD7A.
Intellectual disability v5.298 NUP214 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: NUP214.
Intellectual disability v5.298 MTSS1L Arina Puzriakova Phenotypes for gene: MTSS1L were changed from Global developmental delay; Intellectual disability; Ophthalmological anomalies; Microcephaly; Mild facial dysmorphisms to Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086
White matter disorders and cerebral calcification - narrow panel v3.18 ENTPD1 Achchuthan Shanmugasundram Source NHS GMS was added to ENTPD1.
Source Expert Review Green was added to ENTPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v3.18 CLDN5 Achchuthan Shanmugasundram Source NHS GMS was added to CLDN5.
Source Expert Review Green was added to CLDN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v3.18 C2orf69 Achchuthan Shanmugasundram Source NHS GMS was added to C2orf69.
Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.297 MTSS1L Arina Puzriakova Tag Q4_22_promote_green was removed from gene: MTSS1L.
Early onset or syndromic epilepsy v4.107 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from MED11-associated neurodevelopmental disorder to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Severe microcephaly v4.36 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from MED11-associated neurodevelopmental disorder to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Intellectual disability v5.297 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from MED11-associated neurodevelopmental disorder to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Intellectual disability v5.296 MED11 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MED11.
Intellectual disability v5.296 MAN2C1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MAN2C1.
Intellectual disability v5.296 LHX2 Arina Puzriakova Phenotypes for gene: LHX2 were changed from neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Ataxia and cerebellar anomalies - narrow panel v4.38 TECPR2 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TECPR2.
Ataxia and cerebellar anomalies - narrow panel v4.38 SPTAN1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SPTAN1.
Intellectual disability v5.295 LHX2 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: LHX2.
Intellectual disability v5.295 KLHL20 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KLHL20.
Intellectual disability v5.295 KIF4A Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KIF4A.
Intellectual disability v5.295 KDM5A Arina Puzriakova Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
Ataxia and cerebellar anomalies - narrow panel v4.38 SPG7 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: SPG7.
Intellectual disability v5.294 KDM5A Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KDM5A.
Tag Q2_23_NHS_review was removed from gene: KDM5A.
Intellectual disability v5.294 KDM2B Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KDM2B.
Ataxia and cerebellar anomalies - narrow panel v4.38 SLC52A2 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC52A2.
Ataxia and cerebellar anomalies - narrow panel v4.38 SLC25A46 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC25A46.
Intellectual disability v5.294 KCNK3 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KCNK3.
Intellectual disability v5.294 ITPR1 Arina Puzriakova Tag Q2_23_MOI was removed from gene: ITPR1.
Tag Q2_23_NHS_review was removed from gene: ITPR1.
Ataxia and cerebellar anomalies - narrow panel v4.38 SCN2A Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SCN2A.
Early onset or syndromic epilepsy v4.106 IQSEC2 Arina Puzriakova Publications for gene: IQSEC2 were set to Shoubridge et al (2010) Nat Genet 42(6): 486-8
Early onset or syndromic epilepsy v4.105 IQSEC2 Arina Puzriakova Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1 to Intellectual developmental disorder, X-linked 1, OMIM:309530
Intellectual disability v5.294 IQSEC2 Arina Puzriakova Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530; non-syndromic X-linked intellectual disability; Rett like phenotype in males; MENTAL RETARDATION X-LINKED TYPE 1 (MRX1) to Intellectual developmental disorder, X-linked 1, OMIM:309530
Ataxia and cerebellar anomalies - narrow panel v4.38 NPTX1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: NPTX1.
Intellectual disability v5.293 IQSEC2 Arina Puzriakova Tag Q2_23_MOI was removed from gene: IQSEC2.
Ataxia and cerebellar anomalies - narrow panel v4.38 NFASC Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: NFASC.
Intellectual disability v5.293 INTS11 Arina Puzriakova Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Ataxia and cerebellar anomalies - narrow panel v4.38 INTS11 Arina Puzriakova Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Severe microcephaly v4.35 INTS11 Arina Puzriakova Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Ataxia and cerebellar anomalies - narrow panel v4.37 MAG Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: MAG.
Intellectual disability v5.292 INTS11 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: INTS11.
Intellectual disability v5.292 HUWE1 Arina Puzriakova Tag Q2_23_MOI was removed from gene: HUWE1.
Ataxia and cerebellar anomalies - narrow panel v4.37 INTS11 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: INTS11.
Intellectual disability v5.292 HIST1H4E Arina Puzriakova Tag Q1_23_promote_green was removed from gene: HIST1H4E.
Early onset or syndromic epilepsy v4.104 HECTD4 Arina Puzriakova Classified gene: HECTD4 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v4.104 HECTD4 Arina Puzriakova Gene: hectd4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v4.103 HECTD4 Arina Puzriakova Deleted their comment
Early onset or syndromic epilepsy v4.103 HECTD4 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: HECTD4.
Ataxia and cerebellar anomalies - narrow panel v4.37 GRN Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: GRN.
Childhood onset hereditary spastic paraplegia v4.22 HECTD4 Arina Puzriakova Deleted their comment
Malformations of cortical development v4.6 HECTD4 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: HECTD4.
Malformations of cortical development v4.6 HECTD4 Arina Puzriakova Deleted their comment
Childhood onset hereditary spastic paraplegia v4.22 HECTD4 Arina Puzriakova Classified gene: HECTD4 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v4.22 HECTD4 Arina Puzriakova Gene: hectd4 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v4.21 HECTD4 Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: HECTD4.
Malformations of cortical development v4.6 HECTD4 Arina Puzriakova Classified gene: HECTD4 as Amber List (moderate evidence)
Malformations of cortical development v4.6 HECTD4 Arina Puzriakova Gene: hectd4 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v4.5 HECTD4 Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.292
Malformations of cortical development v4.5 HECTD4 Arina Puzriakova gene: HECTD4 was added
gene: HECTD4 was added to Malformations of cortical development. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Childhood onset hereditary spastic paraplegia v4.21 HECTD4 Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.292
Childhood onset hereditary spastic paraplegia v4.21 HECTD4 Arina Puzriakova gene: HECTD4 was added
gene: HECTD4 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Early onset or syndromic epilepsy v4.103 HECTD4 Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.292
Early onset or syndromic epilepsy v4.103 HECTD4 Arina Puzriakova gene: HECTD4 was added
gene: HECTD4 was added to Early onset or syndromic epilepsy. Sources: Literature,NHS GMS,Expert Review Green
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Ataxia and cerebellar anomalies - narrow panel v4.37 FRMD5 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: FRMD5.
Ataxia and cerebellar anomalies - narrow panel v4.37 FMR1 Achchuthan Shanmugasundram Tag Q4_22_demote_red was removed from gene: FMR1.
Ataxia and cerebellar anomalies - narrow panel v4.37 FEM1C Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: FEM1C.
Ataxia and cerebellar anomalies - narrow panel v4.37 COQ4 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: COQ4.
Ataxia and cerebellar anomalies - narrow panel v4.37 SUFU Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: SUFU.
Tag Q4_22_MOI was removed from gene: SUFU.
Tag Q4_22_promote_green was removed from gene: SUFU.
Tag Q4_22_expert_review was removed from gene: SUFU.
Ataxia and cerebellar anomalies - narrow panel v4.37 TECPR2 Eleanor Williams reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 SUFU Eleanor Williams reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 SPTAN1 Eleanor Williams reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel v4.37 SPG7 Eleanor Williams edited their review of gene: SPG7: Added comment: The mode of inheritance of this gene has been updated to"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal"following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 SLC52A2 Eleanor Williams reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 SLC25A46 Eleanor Williams reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 SCN2A Eleanor Williams reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel v4.37 NPTX1 Eleanor Williams reviewed gene: NPTX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel v4.37 NFASC Eleanor Williams reviewed gene: NFASC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 MAG Eleanor Williams reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 INTS11 Eleanor Williams reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 GRN Eleanor Williams reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.37 FRMD5 Eleanor Williams reviewed gene: FRMD5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia and cerebellar anomalies - narrow panel v4.37 FMR1 Eleanor Williams reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ataxia and cerebellar anomalies - narrow panel v4.37 FEM1C Eleanor Williams reviewed gene: FEM1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia and cerebellar anomalies - narrow panel v4.37 COQ4 Eleanor Williams reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.36 SUFU Achchuthan Shanmugasundram Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.292 HECTD4 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: HECTD4.
Intellectual disability v5.292 GRM7 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: GRM7.
Intellectual disability v5.292 GRIA1 Arina Puzriakova Tag watchlist_moi tag was added to gene: GRIA1.
Mitochondrial disorders v4.95 LETM1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: LETM1.
Mitochondrial disorders v4.95 IDH3A Sarah Leigh Tag Q2_23_promote_green was removed from gene: IDH3A.
Mitochondrial disorders v4.95 IDH3A Sarah Leigh Deleted their comment
Mitochondrial disorders v4.95 CRLS1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: CRLS1.
Intellectual disability v5.292 GRIA1 Arina Puzriakova Tag Autism Spectrum Disorder was removed from gene: GRIA1.
Tag Q2_23_promote_green was removed from gene: GRIA1.
Mitochondrial disorders v4.95 C2orf69 Sarah Leigh Tag Q2_23_promote_green was removed from gene: C2orf69.
Intellectual disability v5.292 GCSH Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GCSH.
Mitochondrial disorders v4.95 ATP5O Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O.
Intellectual disability v5.292 FRMD5 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: FRMD5.
Ataxia and cerebellar anomalies - narrow panel v4.35 TECPR2 Achchuthan Shanmugasundram Source Expert Review Green was added to TECPR2.
Source NHS GMS was added to TECPR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 SUFU Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU.
Source NHS GMS was added to SUFU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 SPTAN1 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTAN1.
Source NHS GMS was added to SPTAN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 SPG7 Achchuthan Shanmugasundram Source NHS GMS was added to SPG7.
Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v4.35 SLC52A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC52A2.
Source NHS GMS was added to SLC52A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 SLC25A46 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A46.
Source NHS GMS was added to SLC25A46.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 SCN2A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN2A.
Source NHS GMS was added to SCN2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 NPTX1 Achchuthan Shanmugasundram Source Expert Review Green was added to NPTX1.
Source NHS GMS was added to NPTX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 NFASC Achchuthan Shanmugasundram Source Expert Review Green was added to NFASC.
Source NHS GMS was added to NFASC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 MAG Achchuthan Shanmugasundram Source Expert Review Green was added to MAG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.292 FLNA Arina Puzriakova Tag Q2_23_demote_red was removed from gene: FLNA.
Ataxia and cerebellar anomalies - narrow panel v4.35 INTS11 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS11.
Source NHS GMS was added to INTS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 GRN Achchuthan Shanmugasundram Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 FRMD5 Achchuthan Shanmugasundram Source Expert Review Green was added to FRMD5.
Source NHS GMS was added to FRMD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 FMR1 Achchuthan Shanmugasundram Source Expert Review Red was added to FMR1.
Source NHS GMS was added to FMR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 FEM1C Achchuthan Shanmugasundram Source Expert Review Green was added to FEM1C.
Source NHS GMS was added to FEM1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v4.35 COQ4 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4.
Source NHS GMS was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.292 FILIP1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: FILIP1.
Intellectual disability v5.292 ENTPD1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ENTPD1.
Mitochondrial disorders v4.95 OGDH Sarah Leigh Tag Q2_23_promote_green was removed from gene: OGDH.
Intellectual disability v5.292 DPH5 Arina Puzriakova Phenotypes for gene: DPH5 were changed from DPH5-related neurodevelopmental disorder to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
Mitochondrial disorders v4.95 ETFB Sarah Leigh Tag Q2_23_promote_green was removed from gene: ETFB.
Intellectual disability v5.291 DPH5 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: DPH5.
Mitochondrial disorders v4.95 ETFA Sarah Leigh Tag Q2_23_promote_green was removed from gene: ETFA.
Intellectual disability v5.291 DDX23 Arina Puzriakova Phenotypes for gene: DDX23 were changed from Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
Mitochondrial disorders v4.95 COASY Sarah Leigh Tag Q2_23_promote_green was removed from gene: COASY.
Mitochondrial disorders v4.95 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Mitochondrial disorders v4.95 OGDH Sarah Leigh edited their review of gene: OGDH: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 LETM1 Sarah Leigh edited their review of gene: LETM1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 IDH3A Sarah Leigh edited their review of gene: IDH3A: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 ETFB Sarah Leigh edited their review of gene: ETFB: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 ETFA Sarah Leigh edited their review of gene: ETFA: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 CRLS1 Sarah Leigh reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 COASY Sarah Leigh edited their review of gene: COASY: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 C2orf69 Sarah Leigh reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.94 SPG7 Sarah Leigh Source NHS GMS was added to SPG7.
Mode of inheritance for gene SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disorders v4.94 OGDH Sarah Leigh Source NHS GMS was added to OGDH.
Mitochondrial disorders v4.94 LETM1 Sarah Leigh Source Expert Review Green was added to LETM1.
Source NHS GMS was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 IDH3A Sarah Leigh Source Expert Review Green was added to IDH3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 CRLS1 Sarah Leigh Source Expert Review Green was added to CRLS1.
Source NHS GMS was added to CRLS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 C2orf69 Sarah Leigh Source Expert Review Green was added to C2orf69.
Source NHS GMS was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 ATP5O Sarah Leigh Source Expert Review Green was added to ATP5O.
Source NHS GMS was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.34 DOHH Arina Puzriakova Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Intellectual disability v5.290 DOHH Arina Puzriakova Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Intellectual disability v5.289 DDX23 Arina Puzriakova Phenotypes for gene: DDX23 were changed from Global developmental delay with speech and behavioral abnormalities, MONDO:0030995 to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Intellectual disability v5.288 DOHH Arina Puzriakova Tag Q4_22_MOI was removed from gene: DOHH.
Tag Q4_22_promote_green was removed from gene: DOHH.
Intellectual disability v5.288 DDX23 Arina Puzriakova Phenotypes for gene: DDX23 were changed from Developmental disorder to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
Intellectual disability v5.287 DDX23 Arina Puzriakova Tag watchlist was removed from gene: DDX23.
Tag Q2_23_promote_green was removed from gene: DDX23.
Intellectual disability v5.287 CTR9 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CTR9.
Intellectual disability v5.287 CPLX1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CPLX1.
Intellectual disability v5.287 CLDN5 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CLDN5.
Intellectual disability v5.287 CCDC82 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CCDC82.
Intellectual disability v5.287 CAPRIN1 Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures to Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures
Intellectual disability v5.287 CAPRIN1 Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures
Intellectual disability v5.286 CAPRIN1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CAPRIN1.
Intellectual disability v5.286 C2orf69 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: C2orf69.
Intellectual disability v5.286 BUB1 Arina Puzriakova Tag Q4_22_promote_green was removed from gene: BUB1.
Intellectual disability v5.286 BAP1 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: BAP1.
Intellectual disability v5.286 ZNF292 Arina Puzriakova reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v5.286 ZMYND8 Arina Puzriakova reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 ZMYM3 Arina Puzriakova reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 WIPI2 Arina Puzriakova reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 UBAP2L Arina Puzriakova reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v5.286 TRA2B Arina Puzriakova reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 TMEM147 Arina Puzriakova reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 TCEAL1 Arina Puzriakova reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 TAF4 Arina Puzriakova reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 TAF2 Arina Puzriakova reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 SUFU Arina Puzriakova commented on gene: SUFU: After NHS Genomic Medicine Service consideration, the rating of this gene has been updated to Green but the mode of inheritance has been set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. Additional comments from reviewing GLHs: 'Consensus view: Monoallelic and biallelic'.
Intellectual disability v5.286 STXBP1 Arina Puzriakova reviewed gene: STXBP1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.286 SLC32A1 Arina Puzriakova reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 SHANK1 Arina Puzriakova reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 SEMA6B Arina Puzriakova reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 SARS Arina Puzriakova commented on gene: SARS: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability v5.286 ROR2 Arina Puzriakova edited their review of gene: ROR2: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Intellectual disability v5.286 ROBO1 Arina Puzriakova reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 RBSN Arina Puzriakova reviewed gene: RBSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 PRKAR1B Arina Puzriakova reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 PPFIBP1 Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 POU3F2 Arina Puzriakova reviewed gene: POU3F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v5.286 PLXNA1 Arina Puzriakova reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.286 PLK1 Arina Puzriakova reviewed gene: PLK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 PAX6 Arina Puzriakova reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v5.286 PAN2 Arina Puzriakova reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 OTUD7A Arina Puzriakova reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 NUP214 Arina Puzriakova reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 MTSS1L Arina Puzriakova commented on gene: MTSS1L: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability v5.286 MED11 Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 MAN2C1 Arina Puzriakova reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 LHX2 Arina Puzriakova reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v5.286 KLHL20 Arina Puzriakova edited their review of gene: KLHL20: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 KIF4A Arina Puzriakova reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v5.286 KDM5A Arina Puzriakova reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.286 KDM2B Arina Puzriakova reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 KCNK3 Arina Puzriakova edited their review of gene: KCNK3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v5.286 ITPR1 Arina Puzriakova edited their review of gene: ITPR1: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.286 IQSEC2 Arina Puzriakova reviewed gene: IQSEC2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 INTS11 Arina Puzriakova edited their review of gene: INTS11: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 HUWE1 Arina Puzriakova reviewed gene: HUWE1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 HIST1H4E Arina Puzriakova reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v5.286 HECTD4 Arina Puzriakova reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 GRM7 Arina Puzriakova reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 GRIA1 Arina Puzriakova edited their review of gene: GRIA1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 GCSH Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 FRMD5 Arina Puzriakova commented on gene: FRMD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability v5.286 FLNA Arina Puzriakova reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v5.286 FILIP1 Arina Puzriakova reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 ENTPD1 Arina Puzriakova edited their review of gene: ENTPD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v5.286 DPH5 Arina Puzriakova reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 DOHH Arina Puzriakova reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 DDX23 Arina Puzriakova reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 CTR9 Arina Puzriakova reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 CPLX1 Arina Puzriakova reviewed gene: CPLX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 CLDN5 Arina Puzriakova reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 CCDC82 Arina Puzriakova reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 CAPRIN1 Arina Puzriakova reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v5.286 C2orf69 Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 BUB1 Arina Puzriakova edited their review of gene: BUB1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.286 BAP1 Arina Puzriakova reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v5.286 ZNF292 Arina Puzriakova Source NHS GMS was added to ZNF292.
Source Expert Review Green was added to ZNF292.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 ZMYND8 Arina Puzriakova Source NHS GMS was added to ZMYND8.
Source Expert Review Green was added to ZMYND8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 ZMYM3 Arina Puzriakova Source NHS GMS was added to ZMYM3.
Source Expert Review Green was added to ZMYM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 WIPI2 Arina Puzriakova Source NHS GMS was added to WIPI2.
Source Expert Review Green was added to WIPI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 UBAP2L Arina Puzriakova Source NHS GMS was added to UBAP2L.
Source Expert Review Green was added to UBAP2L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 TRA2B Arina Puzriakova Source NHS GMS was added to TRA2B.
Source Expert Review Green was added to TRA2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 TMEM147 Arina Puzriakova Source NHS GMS was added to TMEM147.
Source Expert Review Green was added to TMEM147.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 TCEAL1 Arina Puzriakova Source NHS GMS was added to TCEAL1.
Source Expert Review Green was added to TCEAL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 TAF4 Arina Puzriakova Source NHS GMS was added to TAF4.
Source Expert Review Green was added to TAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 TAF2 Arina Puzriakova Source NHS GMS was added to TAF2.
Source Expert Review Green was added to TAF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 SUFU Arina Puzriakova Source NHS GMS was added to SUFU.
Source Expert Review Green was added to SUFU.
Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 STXBP1 Arina Puzriakova Source NHS GMS was added to STXBP1.
Mode of inheritance for gene STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.286 SLC32A1 Arina Puzriakova Source NHS GMS was added to SLC32A1.
Source Expert Review Green was added to SLC32A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 SHANK1 Arina Puzriakova Source NHS GMS was added to SHANK1.
Source Expert Review Green was added to SHANK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 SEMA6B Arina Puzriakova Source NHS GMS was added to SEMA6B.
Source Expert Review Green was added to SEMA6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 SARS Arina Puzriakova Source NHS GMS was added to SARS.
Source Expert Review Green was added to SARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 ROR2 Arina Puzriakova Source Expert Review Red was added to ROR2.
Source NHS GMS was added to ROR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v5.286 ROBO1 Arina Puzriakova Source NHS GMS was added to ROBO1.
Source Expert Review Green was added to ROBO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 RBSN Arina Puzriakova Source NHS GMS was added to RBSN.
Source Expert Review Green was added to RBSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 PRKAR1B Arina Puzriakova Source NHS GMS was added to PRKAR1B.
Source Expert Review Green was added to PRKAR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 PPFIBP1 Arina Puzriakova Source NHS GMS was added to PPFIBP1.
Source Expert Review Green was added to PPFIBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 POU3F2 Arina Puzriakova Source NHS GMS was added to POU3F2.
Source Expert Review Green was added to POU3F2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 PLXNA1 Arina Puzriakova Source NHS GMS was added to PLXNA1.
Source Expert Review Green was added to PLXNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 PLK1 Arina Puzriakova Source NHS GMS was added to PLK1.
Source Expert Review Green was added to PLK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 PAX6 Arina Puzriakova Source Expert Review Red was added to PAX6.
Source NHS GMS was added to PAX6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v5.286 PAN2 Arina Puzriakova Source NHS GMS was added to PAN2.
Source Expert Review Green was added to PAN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 OTUD7A Arina Puzriakova Source NHS GMS was added to OTUD7A.
Source Expert Review Green was added to OTUD7A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 NUP214 Arina Puzriakova Source NHS GMS was added to NUP214.
Source Expert Review Green was added to NUP214.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 MTSS1L Arina Puzriakova Source NHS GMS was added to MTSS1L.
Source Expert Review Green was added to MTSS1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 MED11 Arina Puzriakova Source NHS GMS was added to MED11.
Source Expert Review Green was added to MED11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 MAN2C1 Arina Puzriakova Source NHS GMS was added to MAN2C1.
Source Expert Review Green was added to MAN2C1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 LHX2 Arina Puzriakova Source NHS GMS was added to LHX2.
Source Expert Review Green was added to LHX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 KLHL20 Arina Puzriakova Source NHS GMS was added to KLHL20.
Source Expert Review Green was added to KLHL20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 KIF4A Arina Puzriakova Source NHS GMS was added to KIF4A.
Source Expert Review Green was added to KIF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 KDM5A Arina Puzriakova Source NHS GMS was added to KDM5A.
Source Expert Review Green was added to KDM5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 KDM2B Arina Puzriakova Source NHS GMS was added to KDM2B.
Source Expert Review Green was added to KDM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 KCNK3 Arina Puzriakova Source NHS GMS was added to KCNK3.
Source Expert Review Green was added to KCNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 ITPR1 Arina Puzriakova Source NHS GMS was added to ITPR1.
Mode of inheritance for gene ITPR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.286 IQSEC2 Arina Puzriakova Source NHS GMS was added to IQSEC2.
Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 INTS11 Arina Puzriakova Source NHS GMS was added to INTS11.
Source Expert Review Green was added to INTS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 HUWE1 Arina Puzriakova Source NHS GMS was added to HUWE1.
Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 HIST1H4E Arina Puzriakova Source NHS GMS was added to HIST1H4E.
Source Expert Review Green was added to HIST1H4E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 HECTD4 Arina Puzriakova Source NHS GMS was added to HECTD4.
Source Expert Review Green was added to HECTD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 GRM7 Arina Puzriakova Source NHS GMS was added to GRM7.
Source Expert Review Green was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 GRIA1 Arina Puzriakova Source NHS GMS was added to GRIA1.
Source Expert Review Green was added to GRIA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 GCSH Arina Puzriakova Source NHS GMS was added to GCSH.
Source Expert Review Green was added to GCSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 FRMD5 Arina Puzriakova Source NHS GMS was added to FRMD5.
Source Expert Review Green was added to FRMD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 FLNA Arina Puzriakova Source Expert Review Red was added to FLNA.
Source NHS GMS was added to FLNA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v5.286 FILIP1 Arina Puzriakova Source NHS GMS was added to FILIP1.
Source Expert Review Green was added to FILIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 ENTPD1 Arina Puzriakova Source NHS GMS was added to ENTPD1.
Source Expert Review Green was added to ENTPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 DPH5 Arina Puzriakova Source NHS GMS was added to DPH5.
Source Expert Review Green was added to DPH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 DOHH Arina Puzriakova Source NHS GMS was added to DOHH.
Source Expert Review Green was added to DOHH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 DDX23 Arina Puzriakova Source NHS GMS was added to DDX23.
Source Expert Review Green was added to DDX23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 CTR9 Arina Puzriakova Source NHS GMS was added to CTR9.
Source Expert Review Green was added to CTR9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 CPLX1 Arina Puzriakova Source NHS GMS was added to CPLX1.
Source Expert Review Green was added to CPLX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 CLDN5 Arina Puzriakova Source NHS GMS was added to CLDN5.
Source Expert Review Green was added to CLDN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 CCDC82 Arina Puzriakova Source NHS GMS was added to CCDC82.
Source Expert Review Green was added to CCDC82.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 CAPRIN1 Arina Puzriakova Source NHS GMS was added to CAPRIN1.
Source Expert Review Green was added to CAPRIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 C2orf69 Arina Puzriakova Source NHS GMS was added to C2orf69.
Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 BUB1 Arina Puzriakova Source NHS GMS was added to BUB1.
Source Expert Review Green was added to BUB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.286 BAP1 Arina Puzriakova Source NHS GMS was added to BAP1.
Source Expert Review Green was added to BAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v4.100 TBX1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: TBX1.
Clefting v4.100 RAD21 Sarah Leigh Tag Q4_22_promote_green was removed from gene: RAD21.
Clefting v4.100 TBX1 Sarah Leigh reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting v4.100 RAD21 Sarah Leigh reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting v4.99 TBX1 Sarah Leigh Source Expert Review Green was added to TBX1.
Source NHS GMS was added to TBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v4.99 RAD21 Sarah Leigh Source Expert Review Green was added to RAD21.
Source NHS GMS was added to RAD21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v3.50 NUP54 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NUP54.
Childhood onset dystonia, chorea or related movement disorder v3.50 COX20 Sarah Leigh Tag Q1_23_promote_green was removed from gene: COX20.
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ARFGEF3.
Childhood onset dystonia, chorea or related movement disorder v3.50 NUP54 Sarah Leigh reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.50 COX20 Sarah Leigh reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.50 ARFGEF3 Sarah Leigh reviewed gene: ARFGEF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v3.50 ADAR Sarah Leigh reviewed gene: ADAR: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.49 NUP54 Sarah Leigh Source NHS GMS was added to NUP54.
Source Expert Review Green was added to NUP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v3.49 COX20 Sarah Leigh Source NHS GMS was added to COX20.
Source Expert Review Green was added to COX20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v3.49 ARFGEF3 Sarah Leigh Source NHS GMS was added to ARFGEF3.
Source Expert Review Green was added to ARFGEF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v3.49 ADAR Sarah Leigh Source NHS GMS was added to ADAR.
Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.9 RET Sarah Leigh Deleted their comment
Skeletal dysplasia v4.18 ERI1 Tracy Lester edited their review of gene: ERI1: Added comment: >3 cases confirmed; Changed rating: GREEN
Skeletal dysplasia v4.18 ERI1 Tracy Lester gene: ERI1 was added
gene: ERI1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 37352860
Phenotypes for gene: ERI1 were set to spondyloepimetaphyseal dysplasia; digital anomalies
Penetrance for gene: ERI1 were set to unknown
Mode of pathogenicity for gene: ERI1 was set to Other
Added comment: In this study, the authors uncovered a phenotypic dichotomy in eight individuals from seven unrelated families with different types of ERI1 variants and highlighted the association of missense variants with spondyloepimetaphyseal dysplasia (SEMD), which is a group of skeletal diseases characterized by anomalies in spine and long tubular bones.In contrast, the affected individuals with bi-allelic null variants showed mild intellectual disability and digital anomalies. The detailed evaluation of the skeletal phenotypes of Eri1 knockout (KO) mice and the in vitro chondrogenesis of affected-individual-derived induced pluripotent stem cells (iPSCs) supported the functional involvement of ERI1 in skeletal development. Analyses using ERI1 KO HeLa cells
and affected-individual-derived cells demonstrated functional conservation of ERI1 with its mouse ortholog in 5.8S rRNA maturation and histone mRNAs decay. The 5.8S
rRNA maturation is involved in ribosome biogenesis, defects of which are known to cause ribosomopathies characterized by skeletal dysplasia.12–15 Our study leads to the findings of an SEMD associated with ribosomopathy and established a framework for understanding the molecular mechanisms underlying the ERI1 phenotypic dichotomy.

Missense variants reported to affect residues 134,150, 155, 298 and 299. All cases with biallelic missense variants had short stature, epiphyseal, spinal and digit anomalies, as well as other variable kidney and cardiac anomalies. One case with a LOF and a missense was reported with these features and intellectual disability/developmental delay. The 3 cases with biallelic LOF variants had ID/DD, digital anomalies without the other (height varied from 8th centile to normal).
Sources: NHS GMS
Hereditary neuropathy or pain disorder v3.60 VCP Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: VCP.
Hereditary neuropathy or pain disorder v3.60 VAPB Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: VAPB.
Hereditary neuropathy or pain disorder v3.60 UBA1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: UBA1.
Hereditary neuropathy or pain disorder v3.60 TECPR2 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TECPR2.
Hereditary neuropathy or pain disorder v3.60 SLC25A46 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505; Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260 to Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505; Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
Hereditary neuropathy or pain disorder v3.59 SLC25A46 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260 to Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505; Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
Hereditary neuropathy or pain disorder v3.58 SLC25A46 Achchuthan Shanmugasundram edited their review of gene: SLC25A46: Changed phenotypes to: Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505, Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
Hereditary neuropathy or pain disorder v3.58 SLC25A46 Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: SLC25A46.
Hereditary neuropathy or pain disorder v3.58 SCO2 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SCO2.
Hereditary neuropathy or pain disorder v3.58 MYH14 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: MYH14.
Hereditary neuropathy or pain disorder v3.58 MAG Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: MAG.
Hereditary neuropathy or pain disorder v3.58 GBF1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: GBF1.
Hereditary neuropathy or pain disorder v3.58 DRP2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: DRP2.
Hereditary neuropathy or pain disorder v3.58 COX20 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COX20.
Hereditary neuropathy or pain disorder v3.58 ACOX1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ACOX1.
Hereditary neuropathy or pain disorder v3.58 VCP Sarah Leigh reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v3.58 VAPB Sarah Leigh reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.58 UBA1 Sarah Leigh reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v3.58 TECPR2 Sarah Leigh reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.58 SLC25A46 Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.58 SCO2 Sarah Leigh reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.58 MYH14 Sarah Leigh reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.58 MAG Sarah Leigh reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.58 GBF1 Sarah Leigh reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v3.58 DRP2 Sarah Leigh reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v3.58 COX20 Sarah Leigh reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.58 ACOX1 Sarah Leigh reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v3.57 VCP Achchuthan Shanmugasundram Source Expert Review Green was added to VCP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 VAPB Achchuthan Shanmugasundram Source Expert Review Green was added to VAPB.
Source NHS GMS was added to VAPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 UBA1 Achchuthan Shanmugasundram Source Expert Review Green was added to UBA1.
Source NHS GMS was added to UBA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 TECPR2 Achchuthan Shanmugasundram Source Expert Review Green was added to TECPR2.
Source NHS GMS was added to TECPR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 SLC25A46 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A46.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 SCO2 Achchuthan Shanmugasundram Source Expert Review Green was added to SCO2.
Source NHS GMS was added to SCO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 MYH14 Achchuthan Shanmugasundram Source Expert Review Green was added to MYH14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 MAG Achchuthan Shanmugasundram Source Expert Review Green was added to MAG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 GBF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GBF1.
Source NHS GMS was added to GBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 DRP2 Achchuthan Shanmugasundram Source Expert Review Green was added to DRP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 COX20 Achchuthan Shanmugasundram Source Expert Review Green was added to COX20.
Source NHS GMS was added to COX20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v3.57 ACOX1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACOX1.
Source NHS GMS was added to ACOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v3.18 SPG21 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: SPG21.
Adult onset leukodystrophy v3.18 ADAR Achchuthan Shanmugasundram Tag Q4_22_demote_red was removed from gene: ADAR.
Adult onset leukodystrophy v3.18 SPG21 Sarah Leigh edited their review of gene: SPG21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v3.18 ADAR Sarah Leigh reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v3.17 SPG21 Achchuthan Shanmugasundram Source Expert Review Green was added to SPG21.
Source NHS GMS was added to SPG21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v3.17 ADAR Achchuthan Shanmugasundram Source Expert Review Red was added to ADAR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Unexplained young onset end-stage renal disease v3.9 RET Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: RET.
Unexplained young onset end-stage renal disease v3.9 RET Achchuthan Shanmugasundram Deleted their comment
Unexplained young onset end-stage renal disease v3.9 RET Achchuthan Shanmugasundram commented on gene: RET: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v3.8 RET Sarah Leigh commented on gene: RET: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v3.7 RET Sarah Leigh edited their review of gene: RET: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.6 RET Achchuthan Shanmugasundram changed review comment from: Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review/. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic.; to: Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic.
Unexplained young onset end-stage renal disease v3.6 RET Achchuthan Shanmugasundram Source NHS GMS was added to RET.
Mode of inheritance for gene RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.17 TULP3 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TULP3.
Tag Q2_23_NHS_review was removed from gene: TULP3.
Cystic kidney disease v4.17 ALG5 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ALG5.
Tag Q1_23_NHS_review was removed from gene: ALG5.
Cystic kidney disease v4.17 TULP3 Achchuthan Shanmugasundram commented on gene: TULP3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Cystic kidney disease v4.17 ALG5 Achchuthan Shanmugasundram reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v4.20 WASHC5 Sarah Leigh Tag Q1_23_demote_red was removed from gene: WASHC5.
Tag Q1_23_expert_review was removed from gene: WASHC5.
Childhood onset hereditary spastic paraplegia v4.20 TECPR2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: TECPR2.
Childhood onset hereditary spastic paraplegia v4.20 TECPR2 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 SPTAN1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: SPTAN1.
Childhood onset hereditary spastic paraplegia v4.20 SPTAN1 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 RNF170 Sarah Leigh Tag Q1_23_promote_green was removed from gene: RNF170.
Childhood onset hereditary spastic paraplegia v4.20 RNF170 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 RAB3GAP2 Sarah Leigh Tag Q1_23_promote_green was removed from gene: RAB3GAP2.
Childhood onset hereditary spastic paraplegia v4.20 RAB3GAP2 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 MAG Sarah Leigh Tag Q1_23_promote_green was removed from gene: MAG.
Childhood onset hereditary spastic paraplegia v4.20 MAG Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosoma lfollowing NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 DDX3X Sarah Leigh Tag Q4_22_promote_green was removed from gene: DDX3X.
Childhood onset hereditary spastic paraplegia v4.20 DDX3X Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 CTNNB1 Sarah Leigh Tag Q4_22_promote_green was removed from gene: CTNNB1.
Childhood onset hereditary spastic paraplegia v4.20 CTNNB1 Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 WASHC5 Sarah Leigh reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v4.20 TECPR2 Sarah Leigh reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.20 SPTAN1 Sarah Leigh reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v4.20 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v4.20 RNF170 Sarah Leigh reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.20 RAB3GAP2 Sarah Leigh reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.20 MAG Sarah Leigh reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.20 DDX3X Sarah Leigh reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset hereditary spastic paraplegia v4.20 CTNNB1 Sarah Leigh reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v4.19 WASHC5 Sarah Leigh Source Expert Review Red was added to WASHC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v4.19 TECPR2 Sarah Leigh Source Expert Review Green was added to TECPR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 SPTAN1 Sarah Leigh Source Expert Review Green was added to SPTAN1.
Source NHS GMS was added to SPTAN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 SPG7 Sarah Leigh Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.19 RNF170 Sarah Leigh Source Expert Review Green was added to RNF170.
Source NHS GMS was added to RNF170.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 RAB3GAP2 Sarah Leigh Source Expert Review Green was added to RAB3GAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 MAG Sarah Leigh Source Expert Review Green was added to MAG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 DDX3X Sarah Leigh Source Expert Review Green was added to DDX3X.
Source NHS GMS was added to DDX3X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v4.19 CTNNB1 Sarah Leigh Source Expert Review Green was added to CTNNB1.
Source NHS GMS was added to CTNNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v3.19 SPTAN1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: SPTAN1.
Adult onset hereditary spastic paraplegia v3.19 COQ4 Sarah Leigh Tag Q4_22_promote_green was removed from gene: COQ4.
Adult onset hereditary spastic paraplegia v3.19 SPTAN1 Sarah Leigh reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v3.19 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to XX following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v3.19 COQ4 Sarah Leigh reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v3.18 SPTAN1 Sarah Leigh Source Expert Review Green was added to SPTAN1.
Source NHS GMS was added to SPTAN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v3.18 SPG7 Sarah Leigh Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v3.18 COQ4 Sarah Leigh Source Expert Review Green was added to COQ4.
Source NHS GMS was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.37 VRK1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: VRK1.
Adult onset neurodegenerative disorder v4.37 SS18L1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SS18L1.
Adult onset neurodegenerative disorder v4.37 SS18L1 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Cystic kidney disease v4.16 TULP3 Achchuthan Shanmugasundram Source Expert Review Green was added to TULP3.
Source NHS GMS was added to TULP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v4.16 ALG5 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG5.
Source NHS GMS was added to ALG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.37 SPG7 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SPG7.
Tag Q2_23_MOI was removed from gene: SPG7.
Adult onset neurodegenerative disorder v4.37 SPG21 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SPG21.
Adult onset neurodegenerative disorder v4.37 PSAP Sarah Leigh Tag Q2_23_promote_green was removed from gene: PSAP.
Adult onset neurodegenerative disorder v4.37 NEK1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: NEK1.
Adult onset neurodegenerative disorder v4.37 GBE1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: GBE1.
Adult onset neurodegenerative disorder v4.37 DNAJB2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DNAJB2.
Adult onset neurodegenerative disorder v4.37 GRN Sarah Leigh Tag Q4_22_MOI was removed from gene: GRN.
Adult onset neurodegenerative disorder v4.37 VRK1 Sarah Leigh reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 SS18L1 Sarah Leigh edited their review of gene: SS18L1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v4.37 SPG7 Sarah Leigh commented on gene: SPG7: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v4.37 SPG21 Sarah Leigh edited their review of gene: SPG21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 PSAP Sarah Leigh edited their review of gene: PSAP: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v4.37 NEK1 Sarah Leigh edited their review of gene: NEK1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v4.37 GRN Sarah Leigh reviewed gene: GRN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 GBE1 Sarah Leigh edited their review of gene: GBE1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.37 DNAJB2 Sarah Leigh edited their review of gene: DNAJB2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.36 VRK1 Sarah Leigh Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 SS18L1 Sarah Leigh Source Expert Review Green was added to SS18L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 SPG7 Sarah Leigh Source Expert Review Green was added to SPG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 SPG21 Sarah Leigh Source Expert Review Green was added to SPG21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 PSAP Sarah Leigh Source NHS GMS was added to PSAP.
Source Expert Review Green was added to PSAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 NEK1 Sarah Leigh Source Expert Review Green was added to NEK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 GRN Sarah Leigh Mode of inheritance for gene GRN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.36 GBE1 Sarah Leigh Source NHS GMS was added to GBE1.
Source Expert Review Green was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v4.36 DNAJB2 Sarah Leigh Source NHS GMS was added to DNAJB2.
Source Expert Review Green was added to DNAJB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v4.24 COQ4 Sarah Leigh Tag Q4_22_promote_green was removed from gene: COQ4.
Hereditary ataxia with onset in adulthood v4.24 GRN Sarah Leigh Tag Q4_22_promote_green was removed from gene: GRN.
Hereditary ataxia with onset in adulthood v4.24 SPTAN1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: SPTAN1.
Hereditary ataxia with onset in adulthood v4.24 GRM1 Sarah Leigh Tag Q4_22_MOI was removed from gene: GRM1.
Hereditary ataxia with onset in adulthood v4.24 SPG7 Sarah Leigh Tag Q2_23_MOI was removed from gene: SPG7.
Hereditary ataxia with onset in adulthood v4.24 TERT Sarah Leigh Tag Q4_22_demote_red was removed from gene: TERT.
Hereditary ataxia with onset in adulthood v4.24 SPTAN1 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v4.24 GRN Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v4.24 COQ4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v4.24 TERT Sarah Leigh reviewed gene: TERT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v4.24 SPTAN1 Sarah Leigh reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v4.24 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v4.24 GRN Sarah Leigh reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.24 GRM1 Sarah Leigh reviewed gene: GRM1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.24 COQ4 Sarah Leigh reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.23 TERT Sarah Leigh Source Expert Review Red was added to TERT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v4.23 SPTAN1 Sarah Leigh Source NHS GMS was added to SPTAN1.
Source Expert Review Green was added to SPTAN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v4.23 SPG7 Sarah Leigh Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.23 GRN Sarah Leigh Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v4.23 GRM1 Sarah Leigh Mode of inheritance for gene GRM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v4.23 COQ4 Sarah Leigh Source NHS GMS was added to COQ4.
Source Expert Review Green was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.15 KIF21A Sarah Leigh Tag Q1_23_promote_green was removed from gene: KIF21A.
Tag Q1_23_NHS_review was removed from gene: KIF21A.
Arthrogryposis v5.15 KCNK3 Sarah Leigh Tag Q4_22_promote_green was removed from gene: KCNK3.
Arthrogryposis v5.15 FILIP1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: FILIP1.
Tag Q2_23_NHS_review was removed from gene: FILIP1.
Arthrogryposis v5.15 COL25A1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: COL25A1.
Arthrogryposis v5.15 SELENON Sarah Leigh reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.15 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.15 KCNK3 Sarah Leigh reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis v5.15 FILIP1 Sarah Leigh reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.15 COL25A1 Sarah Leigh reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.14 SELENON Sarah Leigh Source NHS GMS was added to SELENON.
Mode of inheritance for gene SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v5.14 KIF21A Sarah Leigh Source Expert Review Green was added to KIF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.14 KCNK3 Sarah Leigh Source NHS GMS was added to KCNK3.
Source Expert Review Green was added to KCNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.14 FILIP1 Sarah Leigh Source NHS GMS was added to FILIP1.
Source Expert Review Green was added to FILIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v5.14 COL25A1 Sarah Leigh Source NHS GMS was added to COL25A1.
Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.111 ECHS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ECHS1.
Tag Q2_23_NHS_review was removed from gene: ECHS1.
Fetal anomalies v3.111 GATB Sarah Leigh Tag Q2_23_promote_green was removed from gene: GATB.
Tag Q2_23_NHS_review was removed from gene: GATB.
Fetal anomalies v3.111 IBA57 Sarah Leigh Tag Q2_23_promote_green was removed from gene: IBA57.
Tag Q2_23_NHS_review was removed from gene: IBA57.
Fetal anomalies v3.111 KIF21A Sarah Leigh Tag Q2_23_promote_green was removed from gene: KIF21A.
Tag Q2_23_NHS_review was removed from gene: KIF21A.
Fetal anomalies v3.111 MECOM Sarah Leigh Tag Q2_23_promote_green was removed from gene: MECOM.
Tag Q2_23_NHS_review was removed from gene: MECOM.
Fetal anomalies v3.111 MTFMT Sarah Leigh Tag Q2_23_promote_green was removed from gene: MTFMT.
Tag Q2_23_NHS_review was removed from gene: MTFMT.
Fetal anomalies v3.111 MYL9 Sarah Leigh Tag Q2_23_promote_green was removed from gene: MYL9.
Fetal anomalies v3.111 NDUFA6 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFA6.
Tag Q2_23_NHS_review was removed from gene: NDUFA6.
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFAF8.
Tag Q2_23_NHS_review was removed from gene: NDUFAF8.
Fetal anomalies v3.111 NDUFB10 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB10.
Tag Q2_23_NHS_review was removed from gene: NDUFB10.
Fetal anomalies v3.111 NDUFB3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB3.
Tag Q2_23_NHS_review was removed from gene: NDUFB3.
Fetal anomalies v3.111 NDUFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFS1.
Tag Q2_23_NHS_review was removed from gene: NDUFS1.
Fetal anomalies v3.111 PC Sarah Leigh Tag Q2_23_promote_green was removed from gene: PC.
Tag Q2_23_NHS_review was removed from gene: PC.
Fetal anomalies v3.111 PDHB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHB.
Tag Q2_23_NHS_review was removed from gene: PDHB.
Fetal anomalies v3.111 PDHX Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHX.
Tag Q2_23_NHS_review was removed from gene: PDHX.
Fetal anomalies v3.111 PET100 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PET100.
Tag Q2_23_NHS_review was removed from gene: PET100.
Fetal anomalies v3.111 PLXND1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PLXND1.
Fetal anomalies v3.111 PNPLA8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PNPLA8.
Tag Q2_23_NHS_review was removed from gene: PNPLA8.
Fetal anomalies v3.111 PRKACA Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACA.
Fetal anomalies v3.111 PRKACB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACB.
Fetal anomalies v3.111 QRSL1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: QRSL1.
Tag Q2_23_NHS_review was removed from gene: QRSL1.
Fetal anomalies v3.111 RAB11A Sarah Leigh Tag Q2_23_promote_green was removed from gene: RAB11A.
Tag Q2_23_NHS_review was removed from gene: RAB11A.
Fetal anomalies v3.111 RMND1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: RMND1.
Tag Q2_23_NHS_review was removed from gene: RMND1.
Fetal anomalies v3.111 SCUBE3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SCUBE3.
Tag Q2_23_NHS_review was removed from gene: SCUBE3.
Fetal anomalies v3.111 SLC25A46 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SLC25A46.
Tag Q2_23_NHS_review was removed from gene: SLC25A46.
Fetal anomalies v3.111 TK2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TK2.
Tag Q2_23_NHS_review was removed from gene: TK2.
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: UQCRFS1.
Tag Q2_23_NHS_review was removed from gene: UQCRFS1.
Fetal anomalies v3.111 WLS Sarah Leigh Tag Q2_23_promote_green was removed from gene: WLS.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ZMYM2.
Tag Q2_23_NHS_review was removed from gene: ZMYM2.
Fetal anomalies v3.111 EARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: EARS2.
Tag Q2_23_NHS_review was removed from gene: EARS2.
Fetal anomalies v3.111 DNA2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DNA2.
Tag Q2_23_NHS_review was removed from gene: DNA2.
Fetal anomalies v3.111 DARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2.
Tag Q2_23_NHS_review was removed from gene: DARS2.
Fetal anomalies v3.111 COQ7 Sarah Leigh Tag Q2_23_promote_green was removed from gene: COQ7.
Tag Q2_23_NHS_review was removed from gene: COQ7.
Fetal anomalies v3.111 CLCN4 Sarah Leigh Tag Q2_23_promote_green was removed from gene: CLCN4.
Tag Q2_23_NHS_review was removed from gene: CLCN4.
Fetal anomalies v3.111 CLCN4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v3.111 C19orf70 Sarah Leigh Tag Q2_23_promote_green was removed from gene: C19orf70.
Tag Q2_23_NHS_review was removed from gene: C19orf70.
Fetal anomalies v3.111 ATP5O Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q2_23_NHS_review was removed from gene: ATP5O.
Fetal anomalies v3.111 AGTR1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AGTR1.
Tag Q2_23_NHS_review was removed from gene: AGTR1.
Fetal anomalies v3.111 AARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2.
Tag Q2_23_NHS_review was removed from gene: AARS2.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 WLS Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 TK2 Sarah Leigh reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SLC25A46 Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RMND1 Sarah Leigh reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RAB11A Sarah Leigh reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 QRSL1 Sarah Leigh reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PRKACB Sarah Leigh reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 PRKACA Sarah Leigh reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 PNPLA8 Sarah Leigh reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PLXND1 Sarah Leigh reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PET100 Sarah Leigh reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHX Sarah Leigh reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHB Sarah Leigh reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PC Sarah Leigh reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFS1 Sarah Leigh reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB3 Sarah Leigh reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB10 Sarah Leigh reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFA6 Sarah Leigh reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MYL9 Sarah Leigh reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MTFMT Sarah Leigh reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 KDM5C Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 IBA57 Sarah Leigh reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 GATB Sarah Leigh reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ECHS1 Sarah Leigh reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 EARS2 Sarah Leigh reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DNA2 Sarah Leigh reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DARS2 Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 CLCN4 Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 CDX2 Sarah Leigh reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 C1QBP Sarah Leigh reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 C19orf70 Sarah Leigh reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AGTR1 Sarah Leigh reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AARS2 Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.110 KDM5C Sarah Leigh Tag Q4_22_MOI was removed from gene: KDM5C.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 SPI1 Hannah Knight reviewed gene: SPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33951726; Phenotypes: Agammaglobulinemia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.110 ZMYM2 Sarah Leigh Source Expert Review Green was added to ZMYM2.
Source NHS GMS was added to ZMYM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 WLS Sarah Leigh Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 UQCRFS1 Sarah Leigh Source Expert Review Green was added to UQCRFS1.
Source NHS GMS was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 TK2 Sarah Leigh Source Expert Review Green was added to TK2.
Source NHS GMS was added to TK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SLC25A46 Sarah Leigh Source Expert Review Green was added to SLC25A46.
Source NHS GMS was added to SLC25A46.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SCUBE3 Sarah Leigh Source Expert Review Green was added to SCUBE3.
Source NHS GMS was added to SCUBE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RMND1 Sarah Leigh Source Expert Review Green was added to RMND1.
Source NHS GMS was added to RMND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RAB11A Sarah Leigh Source Expert Review Green was added to RAB11A.
Source NHS GMS was added to RAB11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Source NHS GMS was added to QRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACB Sarah Leigh Source Expert Review Green was added to PRKACB.
Source NHS GMS was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACA Sarah Leigh Source Expert Review Green was added to PRKACA.
Source NHS GMS was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Source NHS GMS was added to PNPLA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PLXND1 Sarah Leigh Source Expert Review Green was added to PLXND1.
Source NHS GMS was added to PLXND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PET100 Sarah Leigh Source Expert Review Green was added to PET100.
Source NHS GMS was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHX Sarah Leigh Source Expert Review Green was added to PDHX.
Source NHS GMS was added to PDHX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHB Sarah Leigh Source Expert Review Green was added to PDHB.
Source NHS GMS was added to PDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PC Sarah Leigh Source Expert Review Green was added to PC.
Source NHS GMS was added to PC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFS1 Sarah Leigh Source Expert Review Green was added to NDUFS1.
Source NHS GMS was added to NDUFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB3 Sarah Leigh Source Expert Review Green was added to NDUFB3.
Source NHS GMS was added to NDUFB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB10 Sarah Leigh Source Expert Review Green was added to NDUFB10.
Source NHS GMS was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFAF8 Sarah Leigh Source Expert Review Green was added to NDUFAF8.
Source NHS GMS was added to NDUFAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Source NHS GMS was added to NDUFA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MYL9 Sarah Leigh Source Expert Review Green was added to MYL9.
Source NHS GMS was added to MYL9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Source NHS GMS was added to MTFMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MECOM Sarah Leigh Source Expert Review Green was added to MECOM.
Source NHS GMS was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KIF21A Sarah Leigh Source Expert Review Green was added to KIF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KDM5C Sarah Leigh Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.110 IBA57 Sarah Leigh Source Expert Review Green was added to IBA57.
Source NHS GMS was added to IBA57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 GATB Sarah Leigh Source Expert Review Green was added to GATB.
Source NHS GMS was added to GATB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ECHS1 Sarah Leigh Source Expert Review Green was added to ECHS1.
Source NHS GMS was added to ECHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 EARS2 Sarah Leigh Source Expert Review Green was added to EARS2.
Source NHS GMS was added to EARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 DNA2 Sarah Leigh Source Expert Review Green was added to DNA2.
Source NHS GMS was added to DNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 DARS2 Sarah Leigh Source Expert Review Green was added to DARS2.
Source NHS GMS was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 COQ7 Sarah Leigh Source Expert Review Green was added to COQ7.
Source NHS GMS was added to COQ7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CLCN4 Sarah Leigh Source Expert Review Green was added to CLCN4.
Source NHS GMS was added to CLCN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CDX2 Sarah Leigh Source Expert Review Green was added to CDX2.
Source NHS GMS was added to CDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C1QBP Sarah Leigh Source Expert Review Green was added to C1QBP.
Source NHS GMS was added to C1QBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C19orf70 Sarah Leigh Source Expert Review Green was added to C19orf70.
Source NHS GMS was added to C19orf70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ATP5O Sarah Leigh Source Expert Review Green was added to ATP5O.
Source NHS GMS was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AGTR1 Sarah Leigh Source Expert Review Green was added to AGTR1.
Source NHS GMS was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AARS2 Sarah Leigh Source Expert Review Green was added to AARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.13 TOGARAM1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TOGARAM1.
Neurological ciliopathies v3.13 SUFU Sarah Leigh Tag watchlist_moi was removed from gene: SUFU.
Tag Q4_22_MOI was removed from gene: SUFU.
Tag Q4_22_promote_green was removed from gene: SUFU.
Tag Q4_22_expert_review was removed from gene: SUFU.
Neurological ciliopathies v3.13 SUFU Sarah Leigh Mode of inheritance for gene: SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 IFT74 Sarah Leigh Tag Q2_23_promote_green was removed from gene: IFT74.
Neurological ciliopathies v3.12 CBY1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: CBY1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 RELA Hannah Knight reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28600438, 29305315, 32969189, 35412596, 36926348; Phenotypes: Autoinflammatory disease, familial, Behcet-like-3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurological ciliopathies v3.12 TOGARAM1 Sarah Leigh edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 SUFU Sarah Leigh reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 IFT74 Sarah Leigh edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v3.12 CBY1 Sarah Leigh edited their review of gene: CBY1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v3.11 TOGARAM1 Sarah Leigh Source Expert Review Green was added to TOGARAM1.
Source NHS GMS was added to TOGARAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.11 SUFU Sarah Leigh Source Expert Review Green was added to SUFU.
Source NHS GMS was added to SUFU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.11 IFT74 Sarah Leigh Source Expert Review Green was added to IFT74.
Source NHS GMS was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neurological ciliopathies v3.11 CBY1 Sarah Leigh Source Expert Review Green was added to CBY1.
Source NHS GMS was added to CBY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.33 WLS Sarah Leigh Tag Q2_23_promote_green was removed from gene: WLS.
Severe microcephaly v4.33 TRAPPC10 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TRAPPC10.
Severe microcephaly v4.33 SARS Sarah Leigh Tag Q1_23_promote_green was removed from gene: SARS.
Severe microcephaly v4.33 NUP214 Sarah Leigh Tag Q1_23_promote_green was removed from gene: NUP214.
Severe microcephaly v4.33 INTS11 Sarah Leigh Tag Q2_23_promote_green was removed from gene: INTS11.
Severe microcephaly v4.33 GRM7 Sarah Leigh Tag Q2_23_promote_green was removed from gene: GRM7.
Severe microcephaly v4.33 DOHH Sarah Leigh Tag Q4_22_MOI was removed from gene: DOHH.
Tag Q4_22_promote_green was removed from gene: DOHH.
Severe microcephaly v4.33 ARPC4 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ARPC4.
Severe microcephaly v4.33 WLS Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.33 TRAPPC10 Sarah Leigh reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.33 SARS Sarah Leigh reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.33 NUP214 Sarah Leigh edited their review of gene: NUP214: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.33 INTS11 Sarah Leigh reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.33 GRM7 Sarah Leigh reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.33 DOHH Sarah Leigh commented on gene: DOHH: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe microcephaly v4.33 ARPC4 Sarah Leigh reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v4.32 WLS Sarah Leigh Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 TRAPPC10 Sarah Leigh Source Expert Review Green was added to TRAPPC10.
Source NHS GMS was added to TRAPPC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 SARS Sarah Leigh Source Expert Review Green was added to SARS.
Source NHS GMS was added to SARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 NUP214 Sarah Leigh Source Expert Review Green was added to NUP214.
Source NHS GMS was added to NUP214.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 INTS11 Sarah Leigh Source Expert Review Green was added to INTS11.
Source NHS GMS was added to INTS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 GRM7 Sarah Leigh Source Expert Review Green was added to GRM7.
Source NHS GMS was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 DOHH Sarah Leigh Source Expert Review Green was added to DOHH.
Source NHS GMS was added to DOHH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v4.32 ARPC4 Sarah Leigh Source Expert Review Green was added to ARPC4.
Source NHS GMS was added to ARPC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 JAK1 Hannah Knight changed review comment from: Now four families reported, and variants seem to cluster.
PMID: 28111307 - mother and two sons with immune disorder. De novo variant in mother, also in both children (p.A634D)
PMID: 32750333 - early-onset multi-organ immune dysregulation resulting from a mosaic variant not found in either parent (p.S703I)
PMID: 34496019 - somatic variant found in a patient with hypereosinophilia (p.R629_S632delinsSA)
PMID: 35046931 - novel variant (p.H596D) in an individual with a unique autoinflammatory keratinization disease

Also one report of biallelic disease in 2016 (PMID: 28008925), but none others since then; to: Now four families reported, and variants seem to cluster.
PMID: 28111307 - mother and two sons with immune disorder. De novo variant in mother, also in both children (p.A634D)
PMID: 32750333 - early-onset multi-organ immune dysregulation resulting from a mosaic variant not found in either parent (p.S703I)
PMID: 34496019 - somatic variant found in a patient with hypereosinophilia (p.R629_S632delinsSA)
PMID: 35046931 - novel variant (p.H596D) in an individual with a unique autoinflammatory keratinization disease

Also one report of biallelic disease in 2016 (PMID: 28008925), but none others since then
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 JAK1 Hannah Knight reviewed gene: JAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28111307, 32750333, 34496019, 35046931; Phenotypes: Autoinflammation, immune dysregulation, and eosinophilia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v4.34 SGSH Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: SGSH.
Tag Q2_23_NHS_review was removed from gene: SGSH.
Retinal disorders v4.34 PDSS1 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: PDSS1.
Tag Q4_22_promote_green was removed from gene: PDSS1.
Retinal disorders v4.34 LAMP2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: LAMP2.
Tag Q2_23_NHS_review was removed from gene: LAMP2.
Retinal disorders v4.34 COQ2 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: COQ2.
Tag Q4_22_promote_green was removed from gene: COQ2.
Retinal disorders v4.34 AIPL1 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: AIPL1.
Retinal disorders v4.34 SGSH Achchuthan Shanmugasundram commented on gene: SGSH: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Retinal disorders v4.34 PDSS1 Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.34 LAMP2 Achchuthan Shanmugasundram commented on gene: LAMP2: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Retinal disorders v4.34 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v4.34 AIPL1 Achchuthan Shanmugasundram reviewed gene: AIPL1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Retinal disorders v4.33 SGSH Achchuthan Shanmugasundram Source Expert Review Green was added to SGSH.
Source NHS GMS was added to SGSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 PDSS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1.
Source NHS GMS was added to PDSS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 LAMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMP2.
Source NHS GMS was added to LAMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 COQ2 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ2.
Source NHS GMS was added to COQ2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v4.33 AIPL1 Achchuthan Shanmugasundram Mode of inheritance for gene AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ophthalmological ciliopathies v3.3 SUFU Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: SUFU.
Tag Q4_22_MOI was removed from gene: SUFU.
Tag Q4_22_promote_green was removed from gene: SUFU.
Tag Q4_22_expert_review was removed from gene: SUFU.
Ophthalmological ciliopathies v3.3 SUFU Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ophthalmological ciliopathies v3.2 SUFU Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU.
Source NHS GMS was added to SUFU.
Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 IRF2BP2 Hannah Knight reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27016798, 33864888, 34451894, 36193988; Phenotypes: ?Immunodeficiency, common variable, 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been updated from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: AQP1.
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review was removed from gene: AQP1.
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been demoted from green to grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram Deleted their comment
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram changed review comment from: This gene should be demoted from green to grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been demoted from green to grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.
Hereditary isolated diabetes insipidus v1.4 AQP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: AQP2.
Tag Q4_23_NHS_review was removed from gene: AQP2.
Hereditary isolated diabetes insipidus v1.4 AQP2 Achchuthan Shanmugasundram Deleted their comment
Hereditary isolated diabetes insipidus v1.4 AQP2 Achchuthan Shanmugasundram commented on gene: AQP2: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Hereditary isolated diabetes insipidus v1.4 AQP1 Achchuthan Shanmugasundram edited their review of gene: AQP1: Added comment: The rating of this gene has been updated to Grey following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary isolated diabetes insipidus v1.3 AQP2 Achchuthan Shanmugasundram Source Expert Review Green was added to AQP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary isolated diabetes insipidus v1.3 AQP1 Achchuthan Shanmugasundram Source Expert Review Removed was added to AQP1.
Rating Changed from Green List (high evidence) to No List (delete)
DDG2P v3.73 DMPK_CTG Achchuthan Shanmugasundram Classified STR: DMPK_CTG as Green List (high evidence)
DDG2P v3.73 DMPK_CTG Achchuthan Shanmugasundram Str: dmpk_ctg has been classified as Green List (High Evidence).
DDG2P v3.73 DMPK_CTG Achchuthan Shanmugasundram Classified STR: DMPK_CTG as Green List (high evidence)
DDG2P v3.73 DMPK_CTG Achchuthan Shanmugasundram Str: dmpk_ctg has been classified as Green List (High Evidence).
DDG2P v3.73 DMPK_CTG Achchuthan Shanmugasundram Classified STR: DMPK_CTG as Green List (high evidence)
DDG2P v3.73 DMPK_CTG Achchuthan Shanmugasundram Str: dmpk_ctg has been classified as Green List (High Evidence).
DDG2P v3.72 DMPK_CTG Achchuthan Shanmugasundram reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v3.72 DMPK Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: DMPK.
Tag Q3_21_rating was removed from gene: DMPK.
DDG2P v3.72 DMPK Achchuthan Shanmugasundram Classified gene: DMPK as Red List (low evidence)
DDG2P v3.72 DMPK Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has now been demoted from Green to Red despite having a gene-disease association with 'definitive' rating in the DD panel in G2P. This is because the disease-causing mechanism is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene.
DDG2P v3.72 DMPK Achchuthan Shanmugasundram Gene: dmpk has been classified as Red List (Low Evidence).
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram changed review comment from: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.; to: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: EDNRB.
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram commented on gene: EDNRB: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 HYOU1 Hannah Knight reviewed gene: HYOU1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27913302, 35549617, 35822684; Phenotypes: ?Immunodeficiency 59 and hypoglycemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 HMOX1 Hannah Knight reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 3306677, 9884342, 21088618, 22023467, 26526137; Phenotypes: Heme oxygenase-1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v3.2 CXCR2 Hannah Knight gene: CXCR2 was added
gene: CXCR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453; 34854278
Phenotypes for gene: CXCR2 were set to ?WHIM syndrome 2
Review for gene: CXCR2 was set to GREEN
Added comment: Five patients reported with biallelic variants. 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene (PMID: 24777453). Of other four patients, one had biallelic null variants and presented with neutropenia and myelokathexis (PMID: 34854278). Others all had biallelic missense variants, and presented with neutropenia
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 CXCR2 Hannah Knight reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777453, 34854278; Phenotypes: ?WHIM syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.109 NRXN2 Dmitrijs Rots reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36923655; Phenotypes: ASD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v3.71 NUP107 Achchuthan Shanmugasundram Phenotypes for gene: NUP107 were changed from GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, OMIM:618348
DDG2P v3.70 NUP107 Achchuthan Shanmugasundram Tag watchlist was removed from gene: NUP107.
DDG2P v3.70 CRYGD Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to Cataract 2, multiple types, OMIM:115700
DDG2P v3.70 CRYGD Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to Cataract 2, multiple types, OMIM:115700
DDG2P v3.70 CRYGD Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to Cataract 2, multiple types, OMIM:115700
DDG2P v3.69 CRYGD Achchuthan Shanmugasundram Tag watchlist was removed from gene: CRYGD.
DDG2P v3.69 CRYBA4 Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426
DDG2P v3.69 CRYBA4 Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426
DDG2P v3.69 CRYBA4 Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 610425; MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426
DDG2P v3.68 CRYBA4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: CRYBA4.
DDG2P v3.68 CRADD Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v3.68 CRADD Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v3.68 CRADD Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly; MENTAL RETARDATION, NON-SYNDROMIC 614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v3.67 CRADD Achchuthan Shanmugasundram Tag watchlist was removed from gene: CRADD.
DDG2P v3.67 COMP Achchuthan Shanmugasundram Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400
DDG2P v3.67 COMP Achchuthan Shanmugasundram Tag watchlist was removed from gene: COMP.
DDG2P v3.67 COMP Achchuthan Shanmugasundram Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400
DDG2P v3.67 COMP Achchuthan Shanmugasundram Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400
DDG2P v3.66 CHRNA2 Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607
DDG2P v3.66 CHRNA2 Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607
DDG2P v3.65 CHRNA2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: CHRNA2.
DDG2P v3.65 CACNB4 Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136
DDG2P v3.65 CACNB4 Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136
DDG2P v3.65 CACNB4 Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136
DDG2P v3.65 CACNB4 Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136
DDG2P v3.65 CACNB4 Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY 611136; CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY 311100; EPISODIC ATAXIA TYPE 5 318989; CACNB4-RELATED EPISODIC ATAXIA TYPE 2 279386 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136
DDG2P v3.64 CACNB4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: CACNB4.
DDG2P v3.64 XYLT1 Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777
DDG2P v3.64 XYLT1 Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777
DDG2P v3.64 XYLT1 Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777
DDG2P v3.63 XYLT1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: XYLT1.
DDG2P v3.63 XYLT1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741). The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721).; to: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741).

The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721).
DDG2P v3.63 USP7 Achchuthan Shanmugasundram Phenotypes for gene: USP7 were changed from USP7-related developmental disorder (monoallelic) to USP7-related developmental disorder (monoallelic)
DDG2P v3.63 USP7 Achchuthan Shanmugasundram Phenotypes for gene: USP7 were changed from USP7-related developmental disorder (monoallelic) to USP7-related developmental disorder (monoallelic)
DDG2P v3.63 USP7 Achchuthan Shanmugasundram Phenotypes for gene: USP7 were changed from USP7-related developmental disorder (monoallelic); Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism to USP7-related developmental disorder (monoallelic)
DDG2P v3.62 USP7 Achchuthan Shanmugasundram Tag watchlist was removed from gene: USP7.
DDG2P v3.62 TWIST2 Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110
DDG2P v3.62 TWIST2 Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110
DDG2P v3.62 TWIST2 Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110
DDG2P v3.61 TWIST2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: TWIST2.
DDG2P v3.61 TWIST2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818). The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).; to: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818).

The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram changed review comment from: The 'watchlist' tag was removed as there is only one gene-disease association currently available in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).; to: The 'watchlist' tag was removed as there is only one gene-disease association currently present in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram commented on gene: TRAF7: The 'watchlist' tag was removed as there is only one gene-disease association currently available in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram Phenotypes for gene: TRAF7 were changed from Developmental Delay Congenital Anomalies and Dysmorphic Features to Developmental Delay Congenital Anomalies and Dysmorphic Features
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram Tag watchlist was removed from gene: TRAF7.
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram Phenotypes for gene: TRAF7 were changed from Developmental Delay Congenital Anomalies and Dysmorphic Features to Developmental Delay Congenital Anomalies and Dysmorphic Features
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Developmental delay, congenital malformations and dysmorphism to Developmental Delay Congenital Anomalies and Dysmorphic Features
DDG2P v3.60 TBCE Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
DDG2P v3.60 TBCE Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
DDG2P v3.60 TBCE Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410; KENNY-CAFFEY SYNDROME TYPE 1 244460 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
DDG2P v3.59 TBCE Achchuthan Shanmugasundram Tag watchlist was removed from gene: TBCE.
DDG2P v3.59 TBCE Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028). The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369).; to: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028).

The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369).
DDG2P v3.59 SPTBN2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: SPTBN2.
DDG2P v3.59 SPTBN2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369). The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369).

The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
DDG2P v3.59 SIX1 Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis to BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis
DDG2P v3.59 SIX1 Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis to BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis
DDG2P v3.59 SIX1 Achchuthan Shanmugasundram Phenotypes for gene: SIX1 were changed from Non-syndromic craniosynostosis; DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192; BRANCHIOOTIC SYNDROME TYPE 3 608389 to BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389; Non-syndromic craniosynostosis
DDG2P v3.58 SIX1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: SIX1.
DDG2P v3.58 SIX1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804). The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804).

The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.
DDG2P v3.58 SCN11A Achchuthan Shanmugasundram Phenotypes for gene: SCN11A were changed from CONGENITAL INABILITY TO EXPERIENCE PAIN; EPISODIC PAIN SYNDROME, FAMILIAL 615552 to CONGENITAL INABILITY TO EXPERIENCE PAIN; EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552
DDG2P v3.57 SCN11A Achchuthan Shanmugasundram Tag watchlist was removed from gene: SCN11A.
DDG2P v3.57 PUF60 Achchuthan Shanmugasundram Phenotypes for gene: PUF60 were changed from PUF60 syndrome to PUF60 syndrome
DDG2P v3.57 PUF60 Achchuthan Shanmugasundram Phenotypes for gene: PUF60 were changed from PUF60 syndrome to PUF60 syndrome
DDG2P v3.57 PUF60 Achchuthan Shanmugasundram Phenotypes for gene: PUF60 were changed from 8Q24.3 DELETION-LIKE; PUF60 syndrome to PUF60 syndrome
DDG2P v3.56 PUF60 Achchuthan Shanmugasundram Tag watchlist was removed from gene: PUF60.
DDG2P v3.56 PCGF2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: PCGF2.
DDG2P v3.56 PCGF2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864).

The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
DDG2P v3.56 MYT1L Achchuthan Shanmugasundram Phenotypes for gene: MYT1L were changed from MYT1L syndrome to MYT1L syndrome
DDG2P v3.56 MYT1L Achchuthan Shanmugasundram Phenotypes for gene: MYT1L were changed from MYT1L syndrome to MYT1L syndrome
DDG2P v3.56 MYT1L Achchuthan Shanmugasundram Phenotypes for gene: MYT1L were changed from MYT1L syndrome; INTELLECTUAL DISABILITY to MYT1L syndrome
DDG2P v3.55 MYT1L Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYT1L.
DDG2P v3.55 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v3.55 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v3.55 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v3.54 MYH3 Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYH3.
DDG2P v3.54 MYH3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).; to: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).
DDG2P v3.54 MTOR Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome, OMIM:616638 to Smith-Kingsmore syndrome, OMIM:616638
DDG2P v3.54 MTOR Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome, OMIM:616638 to Smith-Kingsmore syndrome, OMIM:616638
DDG2P v3.54 MTOR Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from EPILEPTIC ENCEPHALOPATHY; Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, OMIM:616638
DDG2P v3.53 MTOR Achchuthan Shanmugasundram Tag watchlist was removed from gene: MTOR.
DDG2P v3.53 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
DDG2P v3.53 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
DDG2P v3.53 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
DDG2P v3.52 MITF Achchuthan Shanmugasundram Tag watchlist was removed from gene: MITF.
DDG2P v3.52 MITF Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061). The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256). The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).; to: The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061).

The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256).

The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).
DDG2P v3.52 MAGEL2 Achchuthan Shanmugasundram Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, OMIM:615547 to Schaaf-Yang syndrome, OMIM:615547
DDG2P v3.52 MAGEL2 Achchuthan Shanmugasundram Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, OMIM:615547
DDG2P v3.51 MAGEL2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: MAGEL2.
DDG2P v3.51 MAFB Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
DDG2P v3.51 MAFB Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
DDG2P v3.51 MAFB Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
DDG2P v3.51 MAFB Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
DDG2P v3.50 MAFB Achchuthan Shanmugasundram Tag watchlist was removed from gene: MAFB.
DDG2P v3.50 MAFB Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22387013). The DDG2P confidence category for the disease Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:27181683).; to: The DDG2P confidence category for the disease MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22387013).

The DDG2P confidence category for the disease Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:27181683).
DDG2P v3.50 LRP2 Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v3.50 LRP2 Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v3.50 LRP2 Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from INTELLECTUAL DISABILITY; DONNAI-BARROW SYNDROME 222448 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v3.49 LRP2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: LRP2.
DDG2P v3.49 LRP2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).; to: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841).

The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).
DDG2P v3.49 KCNK4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: KCNK4.
DDG2P v3.49 KCNK4 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).; to: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).

The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).
DDG2P v3.49 DMPK Achchuthan Shanmugasundram Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900 to DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900
DDG2P v3.49 DMPK Achchuthan Shanmugasundram Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900 to DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900
DDG2P v3.49 DMPK Achchuthan Shanmugasundram Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1 160900 to DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900
DDG2P v3.48 EDNRB Achchuthan Shanmugasundram Phenotypes for gene: EDNRB were changed from ABCD SYNDROME, OMIM:600501 to ABCD SYNDROME, OMIM:600501
DDG2P v3.48 EDNRB Achchuthan Shanmugasundram Phenotypes for gene: EDNRB were changed from ABCD SYNDROME, OMIM:600501 to ABCD SYNDROME, OMIM:600501
DDG2P v3.48 EDNRB Achchuthan Shanmugasundram Phenotypes for gene: EDNRB were changed from ABCD SYNDROME 600501 to ABCD SYNDROME, OMIM:600501
DDG2P v3.47 MYH6 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: MYH6.
Tag Q3_22_expert_review was removed from gene: MYH6.
DDG2P v3.47 ITPR1 Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
DDG2P v3.47 ITPR1 Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
DDG2P v3.47 ITPR1 Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
DDG2P v3.46 ITPR1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: ITPR1.
DDG2P v3.46 ITPR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797). The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007). The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).; to: The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797).

The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007).

The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).
DDG2P v3.46 IL11RA Achchuthan Shanmugasundram Phenotypes for gene: IL11RA were changed from Autosomal Recessive Craniosynostosis to Autosomal Recessive Craniosynostosis
DDG2P v3.46 IL11RA Achchuthan Shanmugasundram Phenotypes for gene: IL11RA were changed from Autosomal Recessive Craniosynostosis to Autosomal Recessive Craniosynostosis
DDG2P v3.46 IL11RA Achchuthan Shanmugasundram Phenotypes for gene: IL11RA were changed from Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis to Autosomal Recessive Craniosynostosis
DDG2P v3.45 IL11RA Achchuthan Shanmugasundram Tag watchlist was removed from gene: IL11RA.
DDG2P v3.45 IFIH1 Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250
DDG2P v3.45 IFIH1 Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250
DDG2P v3.45 IFIH1 Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7 615846; SINGLETON-MERTEN SYNDROME 182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250
DDG2P v3.44 IFIH1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: IFIH1.
DDG2P v3.44 IFIH1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871). The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).; to: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871).

The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).
DDG2P v3.44 GJA1 Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850
DDG2P v3.44 GJA1 Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850
DDG2P v3.44 GJA1 Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME 234100; HYPOPLASTIC LEFT HEART SYNDROME 241550; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850; SYNDACTYLY TYPE 3 186100 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850
DDG2P v3.43 GJA1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: GJA1.
DDG2P v3.43 GJA1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490). The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024). The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485). The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).; to: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490).

The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024).

The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485).

The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843).

The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).
DDG2P v3.43 FBXO11 Achchuthan Shanmugasundram Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder to Variable Neurodevelopmental Disorder
DDG2P v3.42 FBXO11 Achchuthan Shanmugasundram Tag watchlist was removed from gene: FBXO11.
DDG2P v3.42 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671). The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208). The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208). The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).
DDG2P v3.42 FBN1 Achchuthan Shanmugasundram Phenotypes for gene: FBN1 were changed from WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700
DDG2P v3.42 FBN1 Achchuthan Shanmugasundram Phenotypes for gene: FBN1 were changed from WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700
DDG2P v3.42 FBN1 Achchuthan Shanmugasundram Phenotypes for gene: FBN1 were changed from ISOLATED ECTOPIA LENTIS 129600; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212; MARFAN SYNDROME 154700; WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700
DDG2P v3.41 FBN1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: FBN1.
DDG2P v3.41 EYA1 Achchuthan Shanmugasundram Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650 to BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650
DDG2P v3.41 EYA1 Achchuthan Shanmugasundram Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650 to BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650
DDG2P v3.41 EYA1 Achchuthan Shanmugasundram Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1 113650; OTOFACIOCERVICAL SYNDROME 166780 to BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650
DDG2P v3.40 EYA1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EYA1.
DDG2P v3.40 ERCC4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: ERCC4.
DDG2P v3.40 ERBB3 Achchuthan Shanmugasundram Tag watchlist was removed from gene: ERBB3.
DDG2P v3.40 DSTYK Achchuthan Shanmugasundram Tag watchlist was removed from gene: DSTYK.
DDG2P v3.40 DNMT3A Achchuthan Shanmugasundram Tag watchlist was removed from gene: DNMT3A.
DDG2P v3.40 DEAF1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: DEAF1.
DDG2P v3.40 CRYGC Achchuthan Shanmugasundram Tag watchlist was removed from gene: CRYGC.
DDG2P v3.40 COL9A3 Achchuthan Shanmugasundram Tag watchlist was removed from gene: COL9A3.
DDG2P v3.40 COL2A1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: COL2A1.
DDG2P v3.40 COG4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: COG4.
DDG2P v3.40 CLTC Achchuthan Shanmugasundram Tag watchlist was removed from gene: CLTC.
DDG2P v3.40 CACNA1G Achchuthan Shanmugasundram Tag watchlist was removed from gene: CACNA1G.
DDG2P v3.40 CACNA1E Achchuthan Shanmugasundram Tag watchlist was removed from gene: CACNA1E.
DDG2P v3.40 ACTL6B Achchuthan Shanmugasundram Tag watchlist was removed from gene: ACTL6B.
DDG2P v3.40 ACTB Achchuthan Shanmugasundram Tag watchlist was removed from gene: ACTB.
DDG2P v3.40 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
DDG2P v3.40 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
DDG2P v3.40 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501; HEMIMEGALENCEPHALY PIK3CA to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
DDG2P v3.39 FGFR1 Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465
DDG2P v3.39 FGFR1 Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465
DDG2P v3.38 PCDH19 Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088
DDG2P v3.38 PCDH19 Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088
DDG2P v3.38 PCDH19 Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088
DDG2P v3.37 EFNB1 Achchuthan Shanmugasundram Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME, OMIM:304110 to CRANIOFRONTONASAL SYNDROME, OMIM:304110
DDG2P v3.37 EFNB1 Achchuthan Shanmugasundram Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME, OMIM:304110 to CRANIOFRONTONASAL SYNDROME, OMIM:304110
DDG2P v3.37 EFNB1 Achchuthan Shanmugasundram Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME 304110 to CRANIOFRONTONASAL SYNDROME, OMIM:304110
DDG2P v3.36 LMNA Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
DDG2P v3.36 LMNA Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
DDG2P v3.36 LMNA Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660; CARDIOMYOPATHY DILATED TYPE 1A 115200; HUTCHINSON-GILFORD PROGERIA SYNDROME 176670; LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210; HEART-HAND SYNDROME SLOVENIAN TYPE 610140; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
DDG2P v3.35 GJB3 Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE
DDG2P v3.35 GJB3 Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE
DDG2P v3.35 GJB3 Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644; DEAFNESS, AUTOSOMAL RECESSIVE; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE
DDG2P v3.34 MYH8 Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837
DDG2P v3.34 MYH8 Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837
DDG2P v3.34 MYH8 Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE 158300; CARNEY COMPLEX VARIANT 608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837
DDG2P v3.33 MYH8 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.33 KCNE1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: KCNE1.
DDG2P v3.33 KCNE1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122). The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122).

The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.33 KARS Achchuthan Shanmugasundram Phenotypes for gene: KARS were changed from DEAFNESS, AUTOSOMAL RECESSIVE 89 613916; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 to DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916; KARS1-related leukoencephalopathy with or without deafness, OMIM:619147
DDG2P v3.32 KARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668). The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).; to: The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668).

The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).
DDG2P v3.32 CLN6 Achchuthan Shanmugasundram Phenotypes for gene: CLN6 were changed from CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 to CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300
DDG2P v3.32 CLN6 Achchuthan Shanmugasundram Phenotypes for gene: CLN6 were changed from CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300; CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 to CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300
DDG2P v3.31 CLN6 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201).

The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.31 AR Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: AR.
Tag Q3_22_expert_review was removed from gene: AR.
DDG2P v3.31 AR Achchuthan Shanmugasundram commented on gene: AR: The GMS review tags have now been removed as this panel has been updated with the recent version of the DD panel (July 2023) from Gene2Phenotype database.
DDG2P v3.31 AR Achchuthan Shanmugasundram Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
DDG2P v3.31 AR Achchuthan Shanmugasundram Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
DDG2P v3.31 AR Achchuthan Shanmugasundram Phenotypes for gene: AR were changed from ANDROGEN INSENSITIVITY SYNDROME 300068; SPINAL AND BULBAR MUSCULAR ATROPHY 313200 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
DDG2P v3.30 AR Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively.
DDG2P v3.30 SMAD4 Achchuthan Shanmugasundram Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210
DDG2P v3.30 SMAD4 Achchuthan Shanmugasundram Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210
DDG2P v3.29 SMAD4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: SMAD4.
DDG2P v3.29 SMAD4 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
DDG2P v3.29 BGN Achchuthan Shanmugasundram Tag watchlist was removed from gene: BGN.
DDG2P v3.29 BGN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686). The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).; to: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686).

The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).
DDG2P v3.29 ANO5 Achchuthan Shanmugasundram Phenotypes for gene: ANO5 were changed from LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
DDG2P v3.29 ANO5 Achchuthan Shanmugasundram Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA 166260; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
DDG2P v3.28 ANO5 Achchuthan Shanmugasundram Tag watchlist was removed from gene: ANO5.
DDG2P v3.28 ANO5 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
DDG2P v3.28 TGFB2 Achchuthan Shanmugasundram Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 to LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816
DDG2P v3.28 TGFB2 Achchuthan Shanmugasundram Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 to LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816
DDG2P v3.28 TGFB2 Achchuthan Shanmugasundram Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4 614816 to LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816
DDG2P v3.27 TGFB2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.27 SYNE1 Achchuthan Shanmugasundram Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743
DDG2P v3.27 SYNE1 Achchuthan Shanmugasundram Phenotypes for gene: SYNE1 were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743
DDG2P v3.26 SPTLC2 Achchuthan Shanmugasundram Phenotypes for gene: SPTLC2 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640
DDG2P v3.25 SPTLC2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.25 PLA2G6 Achchuthan Shanmugasundram Phenotypes for gene: PLA2G6 were changed from INFANTILE NEUROAXONAL DYSTROPHY 1 256600; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217 to INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600
DDG2P v3.24 PLA2G6 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.24 LDB3 Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452
DDG2P v3.24 LDB3 Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493; CARDIOMYOPATHY DILATED TYPE 1C 601493; MYOPATHY MYOFIBRILLAR TYPE 4 609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452
DDG2P v3.23 LDB3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.23 KRIT1 Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860
DDG2P v3.23 KRIT1 Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860
DDG2P v3.23 KRIT1 Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860
DDG2P v3.23 KRIT1 Achchuthan Shanmugasundram Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860 to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860
DDG2P v3.22 KRIT1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.22 HSPD1 Achchuthan Shanmugasundram Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
DDG2P v3.22 HSPD1 Achchuthan Shanmugasundram Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
DDG2P v3.22 HSPD1 Achchuthan Shanmugasundram Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
DDG2P v3.22 HSPD1 Achchuthan Shanmugasundram Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233 to LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
DDG2P v3.21 HSPD1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 GBA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 COL4A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PORENCEPHALY 2, OMIM:614483 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PORENCEPHALY 2, OMIM:614483 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.21 COL4A1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PORENCEPHALY 1, OMIM:175780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PORENCEPHALY 1, OMIM:175780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.21 ATP13A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PARKINSON DISEASE 9, OMIM:606693 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PARKINSON DISEASE 9, OMIM:606693 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 CR2 Hannah Knight reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22035880, 26325596, 28499783; Phenotypes: Immunodeficiency, common variable, 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.21 KCNK9 Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from BIRK-BAREL SYNDROME, OMIM:612292 to BIRK-BAREL SYNDROME, OMIM:612292
DDG2P v3.21 KCNK9 Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from BIRK-BAREL SYNDROME, OMIM:612292 to BIRK-BAREL SYNDROME, OMIM:612292
DDG2P v3.21 KCNK9 Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from BIRK-BAREL SYNDROME 612292 to BIRK-BAREL SYNDROME, OMIM:612292
DDG2P v3.20 AXIN1 Achchuthan Shanmugasundram Phenotypes for gene: AXIN1 were changed from CAUDAL DUPLICATION ANOMALY 607864 to CAUDAL DUPLICATION ANOMALY, OMIM:607864
DDG2P v3.19 SUFU Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia
DDG2P v3.19 SUFU Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia
DDG2P v3.19 SUFU Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia
DDG2P v3.18 SUFU Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).; to: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance.

The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).
DDG2P v3.18 GNAS Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
DDG2P v3.18 GNAS Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
DDG2P v3.18 GNAS Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION 139320; PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233; ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
DDG2P v3.17 SMO Achchuthan Shanmugasundram Phenotypes for gene: SMO were changed from Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder to Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder
DDG2P v3.17 SMO Achchuthan Shanmugasundram Phenotypes for gene: SMO were changed from Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder to Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder
DDG2P v3.17 SMO Achchuthan Shanmugasundram Phenotypes for gene: SMO were changed from Curry-Jones Syndrome to Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder
DDG2P v3.16 SMO Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).; to: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic.

The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).
DDG2P v3.16 ATP1A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).; to: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807).

The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964).

The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).
DDG2P v3.16 SARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339).

The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).
DDG2P v3.16 FMR1 Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624
DDG2P v3.16 FMR1 Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624
DDG2P v3.16 FMR1 Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624
DDG2P v3.16 FMR1 Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360; FRAGILE X SYNDROME 300624; FRAGILE X TREMOR/ATAXIA SYNDROME 300623 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624
DDG2P v3.15 FMR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively. The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.; to: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively.

The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.
DDG2P v3.15 SCN11A Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CONGENITAL INABILITY TO EXPERIENCE PAIN is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24036948).; to: The DDG2P confidence category for the disease EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease CONGENITAL INABILITY TO EXPERIENCE PAIN is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24036948).
DDG2P v3.15 AARS Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
DDG2P v3.15 AARS Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
DDG2P v3.15 AARS Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
DDG2P v3.14 COL4A3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635). The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).; to: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635).

The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).
DDG2P v3.14 PIK3CA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22658544). The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22729224). The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22658544).

The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22729224).

The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively.
DDG2P v3.14 FGFR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26942290). The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909). The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725). The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392). The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).; to: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:26942290).

The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909).

The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725).

The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392).

The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).
DDG2P v3.14 PTEN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).; to: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic respectively (PMIDs: 12471211;16704655;11476841).

The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).
DDG2P v3.14 PTEN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).; to: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).
DDG2P v3.14 TMEM163 Achchuthan Shanmugasundram Tag de novo tag was added to gene: TMEM163.
DDG2P v3.14 WDR5 Achchuthan Shanmugasundram Tag de novo tag was added to gene: WDR5.
DDG2P v3.14 TCEAL1 Achchuthan Shanmugasundram Tag de novo tag was added to gene: TCEAL1.
DDG2P v3.14 SEMA6B Achchuthan Shanmugasundram Tag de novo tag was added to gene: SEMA6B.
DDG2P v3.14 GRIA1 Achchuthan Shanmugasundram Tag de novo tag was added to gene: GRIA1.
DDG2P v3.14 FRMD5 Achchuthan Shanmugasundram Tag de novo tag was added to gene: FRMD5.
DDG2P v3.14 FEM1C Achchuthan Shanmugasundram Tag de novo tag was added to gene: FEM1C.
DDG2P v3.14 CLCN6 Achchuthan Shanmugasundram Tag de novo tag was added to gene: CLCN6.
DDG2P v3.14 ARF3 Achchuthan Shanmugasundram Tag de novo tag was added to gene: ARF3.
DDG2P v3.14 SYNE1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.14 GJB3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.14 LMNA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.
DDG2P v3.14 LMNA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.
DDG2P v3.14 GNAS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).; to: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/).

The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic (PMIDs: 1594625;15126527;1944469).

The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).
DDG2P v3.14 SMO Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).; to: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).
DDG2P v3.14 ATP1A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).; to: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).
DDG2P v3.14 SARS Achchuthan Shanmugasundram Tag de novo was removed from gene: SARS.
DDG2P v3.14 SARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).
DDG2P v3.14 SARS Achchuthan Shanmugasundram Tag de novo tag was added to gene: SARS.
DDG2P v3.14 FMR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.; to: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively. The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.
DDG2P v3.14 COL4A3 Achchuthan Shanmugasundram Phenotypes for gene: COL4A3 were changed from ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 to ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200
DDG2P v3.14 COL4A3 Achchuthan Shanmugasundram Phenotypes for gene: COL4A3 were changed from ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780; ALPORT SYNDROME AUTOSOMAL DOMINANT 104200 to ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200
DDG2P v3.13 KIAA0391 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: KIAA0391.
DDG2P v3.13 HIST1H2AC Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: HIST1H2AC.
DDG2P v3.13 WARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: WARS.
DDG2P v3.13 TMEM251 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: TMEM251.
DDG2P v3.13 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
DDG2P v3.13 SARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SARS.
DDG2P v3.13 RARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: RARS.
DDG2P v3.13 NARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: NARS.
DDG2P v3.13 MYLPF Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: MYLPF.
DDG2P v3.13 MTSS1L Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: MTSS1L.
DDG2P v3.13 H3F3B Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: H3F3B.
Intellectual disability v5.285 HECTD4 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.285 HECTD4 Achchuthan Shanmugasundram Deleted their comment
DDG2P v3.13 ATP5A1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: ATP5A1.
Hereditary isolated diabetes insipidus v1.2 AQP1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: AQP1.
Hereditary isolated diabetes insipidus v1.2 AQP1 Achchuthan Shanmugasundram commented on gene: AQP1
Hereditary isolated diabetes insipidus v1.2 AQP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AQP2.
Tag Q4_23_NHS_review tag was added to gene: AQP2.
Hereditary isolated diabetes insipidus v1.2 AQP2 Achchuthan Shanmugasundram gene: AQP2 was added
gene: AQP2 was added to Neuropophyseal diabetes insipidus. Sources: NHS GMS
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, OMIM:125800
Review for gene: AQP2 was set to GREEN
Added comment: AQP2 has been added to the panel for R440 Neuropophyseal diabetes insipidus with a green rating as agreed with the NHS Genomic Medicine Service.
Sources: NHS GMS
DDG2P v3.13 NR5A1 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: NR5A1.
DDG2P v3.13 NLRP5 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: NLRP5.
DDG2P v3.13 MTMR14 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: MTMR14.
DDG2P v3.13 LGI1 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: LGI1.
DDG2P v3.13 GJB2 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: GJB2.
DDG2P v3.13 FBXO25 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: FBXO25.
DDG2P v3.13 BPIFB6 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: BPIFB6.
DDG2P v3.13 ALDOB Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: ALDOB.
DDG2P v3.13 AGTR2 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: AGTR2.
DDG2P v3.13 YY1 Achchuthan Shanmugasundram Phenotypes for gene: YY1 were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v3.12 NR5A1 Achchuthan Shanmugasundram commented on gene: NR5A1
DDG2P v3.12 NLRP5 Achchuthan Shanmugasundram commented on gene: NLRP5
DDG2P v3.12 MTMR14 Achchuthan Shanmugasundram commented on gene: MTMR14
DDG2P v3.12 LGI1 Achchuthan Shanmugasundram commented on gene: LGI1
DDG2P v3.12 FBXO25 Achchuthan Shanmugasundram commented on gene: FBXO25
DDG2P v3.12 BPIFB6 Achchuthan Shanmugasundram commented on gene: BPIFB6
DDG2P v3.12 ALDOB Achchuthan Shanmugasundram commented on gene: ALDOB
DDG2P v3.12 AGTR2 Achchuthan Shanmugasundram commented on gene: AGTR2
DDG2P v3.12 ZSWIM6 Achchuthan Shanmugasundram reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25105228; Phenotypes: ACROMELIC FRONTONASAL DYSOSTOSIS, OMIM:603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF750 Achchuthan Shanmugasundram reviewed gene: ZNF750: Rating: GREEN; Mode of pathogenicity: ; Publications: 16751772; Phenotypes: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS, OMIM:610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF713 Achchuthan Shanmugasundram reviewed gene: ZNF713: Rating: RED; Mode of pathogenicity: Other; Publications: 25196122; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF711 Achchuthan Shanmugasundram reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ZNF711-RELATED, OMIM:300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ZNF599 Achchuthan Shanmugasundram reviewed gene: ZNF599: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF526 Achchuthan Shanmugasundram reviewed gene: ZNF526: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZNF462 Achchuthan Shanmugasundram reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610; Phenotypes: Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF407 Achchuthan Shanmugasundram reviewed gene: ZNF407: Rating: RED; Mode of pathogenicity: Other; Publications: 24907849, 32737394; Phenotypes: ZNF407-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZNF292 Achchuthan Shanmugasundram reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF292-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF148 Achchuthan Shanmugasundram reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF148-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF142 Achchuthan Shanmugasundram reviewed gene: ZNF142: Rating: GREEN; Mode of pathogenicity: ; Publications: 31036918, 35616059; Phenotypes: ZNF142-related neurodevelopmental disorder, OMIM:618425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZMYND8 Achchuthan Shanmugasundram reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35916866; Phenotypes: ZMYND8-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMYND11 Achchuthan Shanmugasundram reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27626064, 25281490, 25217958; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMYND10 Achchuthan Shanmugasundram reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23891471; Phenotypes: PRIMARY CILIARY DYSKINESIA-22, OMIM:615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZMYM6 Achchuthan Shanmugasundram reviewed gene: ZMYM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMYM3 Achchuthan Shanmugasundram reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36586412; Phenotypes: ZMYM3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ZMYM2 Achchuthan Shanmugasundram reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: ZMYM2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMPSTE24 Achchuthan Shanmugasundram reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: ; Publications: 12913070; Phenotypes: LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED, OMIM:319186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZMIZ1 Achchuthan Shanmugasundram reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322; Phenotypes: Syndromic Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZIC3 Achchuthan Shanmugasundram reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, OMIM:314390, HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ZIC2 Achchuthan Shanmugasundram reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9771712, 11479728, 21638761; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZIC1 Achchuthan Shanmugasundram reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26340333; Phenotypes: CRANIOSYNOSTOSIS 6, OMIM:616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZFYVE26 Achchuthan Shanmugasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: 18098276, 11342696, 19805727, 17661097; Phenotypes: SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15, OMIM:270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZFYVE19 Achchuthan Shanmugasundram reviewed gene: ZFYVE19: Rating: GREEN; Mode of pathogenicity: ; Publications: 32737136, 33853651; Phenotypes: ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZFPM2 Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: RED; Mode of pathogenicity: ; Publications: 16103912, 24549039; Phenotypes: DIAPHRAGMATIC HERNIA 3, OMIM:610187, ZFPM2-associated malformation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZFP57 Achchuthan Shanmugasundram reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 18622393; Phenotypes: DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL, OMIM:601410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZFHX4 Achchuthan Shanmugasundram reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935336, 33057194; Phenotypes: ZFHX4-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZFHX3 Achchuthan Shanmugasundram reviewed gene: ZFHX3: Rating: RED; Mode of pathogenicity: ; Publications: 32502225, 30809043; Phenotypes: ZFHX3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZEB2 Achchuthan Shanmugasundram reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532472, 11595972, 9719364, 16688751, 11891681, 11592033, 12920073, 12451214, 16088920, 11279515; Phenotypes: MOWAT-WILSON SYNDROME, OMIM:235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZEB1 Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6, OMIM:613270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZDHHC9 Achchuthan Shanmugasundram reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26000327, 17436253; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED ZDHHC9-RELATED, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ZDHHC15 Achchuthan Shanmugasundram reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: ; Publications: 15915161; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 91, OMIM:300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ZCCHC8 Achchuthan Shanmugasundram reviewed gene: ZCCHC8: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZC4H2 Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 4039531, 1915520, 31206972, 36250278, 23623388; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, OMIM:314580, ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, hemizygous, OMIM:314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ZBTB7A Achchuthan Shanmugasundram reviewed gene: ZBTB7A: Rating: RED; Mode of pathogenicity: ; Publications: 31645653, 34515416; Phenotypes: ZBTB7A-associated developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZBTB40 Achchuthan Shanmugasundram reviewed gene: ZBTB40: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZBTB20 Achchuthan Shanmugasundram reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25017102; Phenotypes: PRIMROSE SYNDROME, OMIM:259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZBTB18 Achchuthan Shanmugasundram reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZBTB18 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZBTB16 Achchuthan Shanmugasundram reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 YY1 Achchuthan Shanmugasundram reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28575647, 21076407; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 YWHAG Achchuthan Shanmugasundram reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777935; Phenotypes: Early-Onset Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 YRDC Achchuthan Shanmugasundram reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: YRDC-associated nephrotic syndrome and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 YARS2 Achchuthan Shanmugasundram reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23918765, 30026338, 20598274; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 YAP1 Achchuthan Shanmugasundram reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462371, 27267789; Phenotypes: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 XYLT2 Achchuthan Shanmugasundram reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26987875, 28884924, 26027496, 29136277; Phenotypes: SPONDYLOOCULAR SYNDROME, OMIM:605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XYLT1 Achchuthan Shanmugasundram reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24581741, 30554721; Phenotypes: DESBUQUOIS DYSPLASIA 2, OMIM:615777, Baratela Scott Syndrome, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XRCC4 Achchuthan Shanmugasundram reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728776; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: ; Publications: 20179356; Phenotypes: NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1, OMIM:613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPC Achchuthan Shanmugasundram reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662655, 8298653, 19478817, 11511294, 9804340, 11121128; Phenotypes: XERODERMA PIGMENTOSUM, GROUP C, OMIM:278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPA Achchuthan Shanmugasundram reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 16098033, 1339397, 2234061, 10767341, 1372102; Phenotypes: XERODERMA PIGMENTOSUM, GROUP A, OMIM:278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WWOX Achchuthan Shanmugasundram reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 24369382, 24456803; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OMIM:616211, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, OMIM:614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WT1 Achchuthan Shanmugasundram reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8388765, 1302008, 10571943, 1327525, 9499425, 1658787, 1655284; Phenotypes: DENYS-DRASH SYNDROME, OMIM:194080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WRAP53 Achchuthan Shanmugasundram reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT7A Achchuthan Shanmugasundram reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9128926, 20949531, 21344627, 21271649, 16826533; Phenotypes: WNT7A- associated skeletal malformations syndrome, OMIM:228930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT5A Achchuthan Shanmugasundram reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19918918, 5771504; Phenotypes: WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WNT4 Achchuthan Shanmugasundram reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18179883, 15317892; Phenotypes: MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, SERKAL SYNDROME, OMIM:611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 WNT3 Achchuthan Shanmugasundram reviewed gene: WNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14872406; Phenotypes: TETRA-AMELIA SYNDROME, OMIM:276069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT10B Achchuthan Shanmugasundram reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635353, 12072797; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 6, OMIM:225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT1 Achchuthan Shanmugasundram reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23499309; Phenotypes: OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNK3 Achchuthan Shanmugasundram reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: WNK3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 WFS1 Achchuthan Shanmugasundram reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21067485, 25390390, 17568405, 22311385, 22226368, 10521293, 23373429, 15605410, 18806274, 14724730, 21726277, 11295831, 15151504, 18544103, 16442662, 21823543, 21564155, 15503287, 11161832, 22781099, 19042979, 15277431, 16648378, 12107816, 21623591, 15070927, 22238590, 21446023, 19160074, 23103830, 21538838, 21968327, 21602428, 9771706, 12707373, 11317648, 16151413, 20069065, 18660851, 20875904, 16459465; Phenotypes: Wolfram-like syndrome, autosomal dominant, OMIM:614296, WOLFRAM SYNDROME 1, OMIM:222300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 WDR81 Achchuthan Shanmugasundram reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: Other; Publications: 21885617; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR73 Achchuthan Shanmugasundram reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: 25466283; Phenotypes: GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR62 Achchuthan Shanmugasundram reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: ; Publications: 20890279, 20890278, 20729831, 21834044, 10573015; Phenotypes: MICROCEPHALY CORTICAL MALFORMATIONS AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR60 Achchuthan Shanmugasundram reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: ; Publications: 23910462; Phenotypes: SHORT-RIB POLYDACTYLY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR5 Achchuthan Shanmugasundram reviewed gene: WDR5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36408368; Phenotypes: WDR5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WDR45B Achchuthan Shanmugasundram reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28503735, 35322404, 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR45 Achchuthan Shanmugasundram reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612247, 28932395, 28371320, 30713886, 30539914, 23176820, 29981852, 26609730, 28551038, 31466010, 27030146, 26790960, 26240209, 28361255, 29171013, 29082105, 29681108, 29600274, 26022463, 27957548, 27681470; Phenotypes: WDR45-RELATED NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 WDR4 Achchuthan Shanmugasundram reviewed gene: WDR4: Rating: RED; Mode of pathogenicity: ; Publications: 30079490; Phenotypes: GALLOWAY-MOWAT SYNDROME 6, OMIM:618347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR37 Achchuthan Shanmugasundram reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31327508, 31327510; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WDR35 Achchuthan Shanmugasundram reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473986, 35875935, 20817137; Phenotypes: CRANIOECTODERMAL DYSPLASIA 2, OMIM:613610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR34 Achchuthan Shanmugasundram reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24183449; Phenotypes: SEVERE ASPHYXIATING THORACIC DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR26 Achchuthan Shanmugasundram reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: ; Publications: 28686853; Phenotypes: Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features, OMIM:617616; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WDR19 Achchuthan Shanmugasundram reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19430947, 22019273; Phenotypes: CRANIOECTODERMAL DYSPLASIA 4, OMIM:614378, ASPHYXIATING THORACIC DYSTROPHY 5, OMIM:614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR11 Achchuthan Shanmugasundram reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: WDR11-associated intellectual disability and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDPCP Achchuthan Shanmugasundram reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BARDET-BIEDL SYNDROME TYPE 15, OMIM:615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDFY3 Achchuthan Shanmugasundram reviewed gene: WDFY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327001; Phenotypes: Primary Microcephaly or macrocephaly with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WASHC5 Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WASF1 Achchuthan Shanmugasundram reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29961568; Phenotypes: Intellectual Disability with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WARS Achchuthan Shanmugasundram reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369220, 31321409, 31069783, 35815345; Phenotypes: WARS1-associated neurodevelopmental syndrome, Distal hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WAC Achchuthan Shanmugasundram reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26264232, 26757981, 35018708; Phenotypes: Desanto-Shinawi syndrome, OMIM:616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VSX2 Achchuthan Shanmugasundram reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, OMIM:610092, MICROPHTHALMIA ISOLATED TYPE 2, OMIM:610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VRK1 Achchuthan Shanmugasundram reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19646678; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VPS53 Achchuthan Shanmugasundram reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: ; Publications: 30100179, 24577744; Phenotypes: Progressive cerebella-cerebral atrophy type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VPS4A Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33186543, 33186545; Phenotypes: CIMDAG Syndrome, biallelic, CIMDAG Syndrome, monoallelic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VPS33B Achchuthan Shanmugasundram reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, OMIM:208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VPS13B Achchuthan Shanmugasundram reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31580008; Phenotypes: COHEN SYNDROME, OMIM:216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VLDLR Achchuthan Shanmugasundram reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 18326629, 18043714, 16080122; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 1, OMIM:224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VIPAS39 Achchuthan Shanmugasundram reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, OMIM:613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VIP Achchuthan Shanmugasundram reviewed gene: VIP: Rating: RED; Mode of pathogenicity: ; Publications: 23849776; Phenotypes: ASPERGER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VDR Achchuthan Shanmugasundram reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: ; Publications: 3024987, 9005998, 9360557, 2557627, 11564167, 2177843, 17970811, 2558018, 2849209, 8675579, 8392085, 8961271; Phenotypes: RICKETS VITAMIN D-DEPENDENT TYPE 2A, OMIM:277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VCP Achchuthan Shanmugasundram reviewed gene: VCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: VCP-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VANGL1 Achchuthan Shanmugasundram reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: Other; Publications: 17409324; Phenotypes: NEURAL TUBE DEFECTS, OMIM:182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VAMP2 Achchuthan Shanmugasundram reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30929742; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VAC14 Achchuthan Shanmugasundram reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: Other; Publications: 27292112; Phenotypes: Progressive neurological disorder and regression of developmental milestones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UVSSA Achchuthan Shanmugasundram reviewed gene: UVSSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UTP4 Achchuthan Shanmugasundram reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: Other; Publications: 12417987; Phenotypes: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS, OMIM:205306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 USP9X Achchuthan Shanmugasundram reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 24607389, 31443933, 26833328; Phenotypes: MRX99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 USP7 Achchuthan Shanmugasundram reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30679821, 26365382; Phenotypes: USP7-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 USP27X Achchuthan Shanmugasundram reviewed gene: USP27X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 USP18 Achchuthan Shanmugasundram reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: ; Publications: 27325888; Phenotypes: Severe pseudo-TORCH syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 USP14 Achchuthan Shanmugasundram reviewed gene: USP14: Rating: RED; Mode of pathogenicity: Other; Publications: 35066879; Phenotypes: DISTAL ARTHROGRYPOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 USB1 Achchuthan Shanmugasundram reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25044170, 23393019, 23190533; Phenotypes: Poikiloderma with neutropenia, OMIM:604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UROS Achchuthan Shanmugasundram reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8946173, 19965637, 7860775, 2331520, 12060141, 1733834, 11254675, 9834209; Phenotypes: CONGENITAL ERYTHROPOIETIC PORPHYRIA, OMIM:263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UROC1 Achchuthan Shanmugasundram reviewed gene: UROC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19304569; Phenotypes: UROCANASE DEFICIENCY, OMIM:276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UQCRQ Achchuthan Shanmugasundram reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UQCRB Achchuthan Shanmugasundram reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED, OMIM:257827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UPF3B Achchuthan Shanmugasundram reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704778; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 14, OMIM:300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 UPF1 Achchuthan Shanmugasundram reviewed gene: UPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: UPF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 UNC80 Achchuthan Shanmugasundram reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 26708753, 26708751; Phenotypes: Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UNC45B Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217308; Phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UNC45A Achchuthan Shanmugasundram reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575086; Phenotypes: Osteootohepatoenteric syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UMPS Achchuthan Shanmugasundram reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 9042911; Phenotypes: OROTIC ACIDURIA TYPE 1, OMIM:258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UHRF1 Achchuthan Shanmugasundram reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: Other; Publications: 36458887; Phenotypes: UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UGT1A1 Achchuthan Shanmugasundram reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497253, 9295054, 11968090, 9039987; Phenotypes: CRIGLER-NAJJAR SYNDROME, TYPE I, OMIM:218800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UGP2 Achchuthan Shanmugasundram reviewed gene: UGP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31820119; Phenotypes: UGP2 Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UFSP2 Achchuthan Shanmugasundram reviewed gene: UFSP2: Rating: RED; Mode of pathogenicity: Other; Publications: 33473208; Phenotypes: UFSP2-associated developmental delay and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UFM1 Achchuthan Shanmugasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UFC1 Achchuthan Shanmugasundram reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBTF Achchuthan Shanmugasundram reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777933; Phenotypes: Childhood-Onset Neurodegeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 UBR7 Achchuthan Shanmugasundram reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 36757286, 33340455; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBR1 Achchuthan Shanmugasundram reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006206, 16311597, 18553553; Phenotypes: JOHANSON-BLIZZARD SYNDROME, OMIM:243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE4A Achchuthan Shanmugasundram reviewed gene: UBE4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33420346; Phenotypes: UBE4A-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE3B Achchuthan Shanmugasundram reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23200864, 21567902; Phenotypes: BLEPHAROPHIMOSIS-INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE3A Achchuthan Shanmugasundram reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1338769, 7905534, 8988171; Phenotypes: ANGELMAN SYNDROME, OMIM:105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v3.12 UBE2T Achchuthan Shanmugasundram reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, OMIM:616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE2A Achchuthan Shanmugasundram reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UBE2A-RELATED X-LINKED SYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:319562; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 UBAP2L Achchuthan Shanmugasundram reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 35977029; Phenotypes: UBAP2L-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 UBA5 Achchuthan Shanmugasundram reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545681, 27545674; Phenotypes: Severe Infantile-Onset Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 U2AF2 Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: U2AF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TYRP1 Achchuthan Shanmugasundram reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15996218, 8651291, 19533799, 16704458; Phenotypes: OCULOCUTANEOUS ALBINISM TYPE 3, OMIM:203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TYR Achchuthan Shanmugasundram reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 30679655, 8477259, 1970634, 2511845, 3081286, 28667292; Phenotypes: OCULOCUTANEOUS ALBINISM TYPE 1, OMIM:203100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TXNL4A Achchuthan Shanmugasundram reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434003; Phenotypes: BURN MCKEOWN SYNDROME, OMIM:608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TWIST2 Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14069095, 26119818, 21931173, 8818454; Phenotypes: SETLEIS SYNDROME, OMIM:227260, ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 TWIST1 Achchuthan Shanmugasundram reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17343269, 8988166, 8988167, 9259286; Phenotypes: SAETHRE-CHOTZEN SYNDROME, OMIM:101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUSC3 Achchuthan Shanmugasundram reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21739581, 18455129; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 7, OMIM:611093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUFM Achchuthan Shanmugasundram reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBGCP6 Achchuthan Shanmugasundram reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBGCP4 Achchuthan Shanmugasundram reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817018; Phenotypes: AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBGCP2 Achchuthan Shanmugasundram reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31630790; Phenotypes: Microcephaly and Lissencephaly Spectrum Disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBG1 Achchuthan Shanmugasundram reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: Posteriorly predominant pachygyria and severe microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB4A Achchuthan Shanmugasundram reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23582646; Phenotypes: HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB3 Achchuthan Shanmugasundram reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20074521, 20829227; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB2B Achchuthan Shanmugasundram reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22333901, 19465910; Phenotypes: POLYMICROGYRIA ASYMMETRIC, OMIM:610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB2A Achchuthan Shanmugasundram reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB Achchuthan Shanmugasundram reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23246003, 26637975; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBA8 Achchuthan Shanmugasundram reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: ; Publications: 19896110; Phenotypes: POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OMIM:613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBA1A Achchuthan Shanmugasundram reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21403111, 17218254, 18728072, 30016746, 17584854, 33649541, 18954413; Phenotypes: LISSENCEPHALY TYPE 3, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TTN Achchuthan Shanmugasundram reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31660661, 32778822, 29575618, 36495114, 29691892, 17444505, 35605965, 28040389; Phenotypes: Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTI2 Achchuthan Shanmugasundram reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC8 Achchuthan Shanmugasundram reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451172; Phenotypes: RETINITIS PIGMENTOSA TYPE 51, OMIM:613464, BARDET-BIEDL SYNDROME TYPE 8, OMIM:615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC7A Achchuthan Shanmugasundram reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23423984; Phenotypes: INTESTINAL ATRESIA, MULTIPLE, OMIM:243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC5 Achchuthan Shanmugasundram reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32439809; Phenotypes: TTC5-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC37 Achchuthan Shanmugasundram reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: 21120949, 20176027; Phenotypes: TRICHOHEPATOENTERIC SYNDROME, OMIM:222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC25 Achchuthan Shanmugasundram reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486780; Phenotypes: Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC19 Achchuthan Shanmugasundram reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, OMIM:124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC12 Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: RED; Mode of pathogenicity: ; Publications: 31978331; Phenotypes: TTC12-related Primary Ciliary Dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSPAN7 Achchuthan Shanmugasundram reviewed gene: TSPAN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655063, 10449641; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 58, OMIM:300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TSHZ1 Achchuthan Shanmugasundram reviewed gene: TSHZ1: Rating: RED; Mode of pathogenicity: ; Publications: 22152683; Phenotypes: AURAL ATRESIA, CONGENITAL, OMIM:607842; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TSHR Achchuthan Shanmugasundram reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9100579, 9589691, 7528344, 9329388, 9185526, 8954020, 11095460, 12050212, 10720030, 9854118; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 TSHB Achchuthan Shanmugasundram reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 2792087; Phenotypes: HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, OMIM:275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN54 Achchuthan Shanmugasundram reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN34 Achchuthan Shanmugasundram reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN2 Achchuthan Shanmugasundram reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN15 Achchuthan Shanmugasundram reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27392077; Phenotypes: Pontocerebellar Hypoplasia and Progressive Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSC2 Achchuthan Shanmugasundram reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11403047, 9302281, 12752578, 10206124, 19259131, 9463313, 8824881, 10069705, 17120248, 9361032, 8825048, 8634701, 7581393; Phenotypes: TUBEROUS SCLEROSIS TYPE 2, OMIM:613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TSC1 Achchuthan Shanmugasundram reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9242607, 10823953, 10340649, 18830229, 10053179; Phenotypes: TUBEROUS SCLEROSIS TYPE 1, OMIM:191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRRAP Achchuthan Shanmugasundram reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30827496; Phenotypes: Autism and Syndromic Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPV6 Achchuthan Shanmugasundram reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29861107; Phenotypes: Transient Neonatal Hyperparathyroidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRPV4 Achchuthan Shanmugasundram reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20425821, 19232556, 20577006, 21964829; Phenotypes: METATROPIC DYSPLASIA, OMIM:156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPV3 Achchuthan Shanmugasundram reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22405088; Phenotypes: OLMSTED SYNDROME, OMIM:614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPS1 Achchuthan Shanmugasundram reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14560312, 11359471, 10615131; Phenotypes: TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1, OMIM:190350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPM3 Achchuthan Shanmugasundram reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36648066, 32439617, 34438093, 35146895, 31278393; Phenotypes: TRPM3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPM1 Achchuthan Shanmugasundram reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19878917, 20300565, 19896113, 19896109; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C, OMIM:613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRPC5 Achchuthan Shanmugasundram reviewed gene: TRPC5: Rating: RED; Mode of pathogenicity: ; Publications: 36323681; Phenotypes: TRPC5-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TRNT1 Achchuthan Shanmugasundram reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25193871, 29170023, 27370603, 32592741, 33936027, 27389523, 32181284, 26494905, 33843817, 30758723; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRMT10C Achchuthan Shanmugasundram reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132592; Phenotypes: Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRMT10A Achchuthan Shanmugasundram reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26526202, 25053765, 24204302, 26535115; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRMT1 Achchuthan Shanmugasundram reviewed gene: TRMT1: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIT1 Achchuthan Shanmugasundram reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 28185376, 32948376, 31140736, 24901367; Phenotypes: tRNA isopentenyltransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIP4 Achchuthan Shanmugasundram reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIP13 Achchuthan Shanmugasundram reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: 28553959; Phenotypes: Mosaic Variegated Aneuploidy and Wilms Tumour; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIP12 Achchuthan Shanmugasundram reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27848077, 31814248, 28251352, 36747006; Phenotypes: TRIP12-related intellectual disability with/without autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRIP11 Achchuthan Shanmugasundram reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20089971; Phenotypes: ACHONDROGENESIS TYPE 1A, OMIM:200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIO Achchuthan Shanmugasundram reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26235986, 27418539, 28928363, 32109419; Phenotypes: INTELLECTUAL DISABILITY, OMIM:601893; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRIM8 Achchuthan Shanmugasundram reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32531461, 30244534, 27346735, 33508234; Phenotypes: TRIM8-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRIM37 Achchuthan Shanmugasundram reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULIBREY NANISM, OMIM:253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIM32 Achchuthan Shanmugasundram reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: 11822024, 17994549, 16606853; Phenotypes: BARDET-BIEDL SYNDROME TYPE 11, OMIM:615988, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H, OMIM:254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TREX1 Achchuthan Shanmugasundram reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17357087, 16845398; Phenotypes: AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OMIM:225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC9 Achchuthan Shanmugasundram reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 20004764, 20004763, 22549410, 17120046; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 13, OMIM:613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC4 Achchuthan Shanmugasundram reviewed gene: TRAPPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33011761, 32125366, 31794024; Phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC2L Achchuthan Shanmugasundram reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: Other; Publications: 32843486, 30120216; Phenotypes: TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC2 Achchuthan Shanmugasundram reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OMIM:313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TRAPPC12 Achchuthan Shanmugasundram reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777934; Phenotypes: Progressive Childhood Encephalopathy and Golgi Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC11 Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23830518; Phenotypes: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC10 Achchuthan Shanmugasundram reviewed gene: TRAPPC10: Rating: RED; Mode of pathogenicity: Other; Publications: 30167849; Phenotypes: TRAPPC10-associated intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAIP Achchuthan Shanmugasundram reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26595769; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAF7 Achchuthan Shanmugasundram reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29961569; Phenotypes: Developmental Delay Congenital Anomalies and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRA2B Achchuthan Shanmugasundram reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36549593; Phenotypes: TRA2B-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TPRKB Achchuthan Shanmugasundram reviewed gene: TPRKB: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TPP2 Achchuthan Shanmugasundram reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33586135, 25414442, 25525876; Phenotypes: TPP2-related immune deficiency, autoimmune disease and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TPP1 Achchuthan Shanmugasundram reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10330339, 17959406, 12376936, 12414822, 9295267, 10665500; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 2, OMIM:204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TPM3 Achchuthan Shanmugasundram reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33768912, 24692096; Phenotypes: Nemaline/Cap myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TPM2 Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12592607; Phenotypes: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TP73 Achchuthan Shanmugasundram reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761; Phenotypes: TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TP63 Achchuthan Shanmugasundram reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 14684701, 15736220, 19530185, 10535733, 12939657, 11528512, 12766194, 12838557, 11462173, 9443880, 17609671, 21204238, 11159940, 16740912, 10886756, 3366140, 11929852, 19239083, 16724007, 10839977, 16114047; Phenotypes: LIMB-MAMMARY SYNDROME, OMIM:603543, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, OMIM:106260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TP53RK Achchuthan Shanmugasundram reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 30053862; Phenotypes: GALLOWAY-MOWAT SYNDROME 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TOP3A Achchuthan Shanmugasundram reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TOGARAM1 Achchuthan Shanmugasundram reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32747439, 32453716; Phenotypes: TOGARAM1-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TOE1 Achchuthan Shanmugasundram reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 28092684; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TNRC6B Achchuthan Shanmugasundram reviewed gene: TNRC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32152250; Phenotypes: TNRC6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TNPO2 Achchuthan Shanmugasundram reviewed gene: TNPO2: Rating: RED; Mode of pathogenicity: Other; Publications: 34314705; Phenotypes: TNPO2-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TNNT3 Achchuthan Shanmugasundram reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977145, 29266598; Phenotypes: TNNT3-associated congenital myopathy (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TNFRSF13B Achchuthan Shanmugasundram reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16007086; Phenotypes: IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMX2 Achchuthan Shanmugasundram reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31735293; Phenotypes: Primary microcephaly, cortical malformation and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMTC3 Achchuthan Shanmugasundram reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428; Phenotypes: Cobblestone Lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMPRSS6 Achchuthan Shanmugasundram reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19357398, 18408718, 19592582, 18596229; Phenotypes: IRON-REFRACTORY IRON DEFICIENCY ANEMIA, OMIM:206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM94 Achchuthan Shanmugasundram reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526868; Phenotypes: Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM70 Achchuthan Shanmugasundram reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: 21147908, 18953340; Phenotypes: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, OMIM:614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM67 Achchuthan Shanmugasundram reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19508969, 17377820, 16415887; Phenotypes: NEPHRONOPHTHISIS TYPE 11, OMIM:613550, COACH SYNDROME, OMIM:216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM63C Achchuthan Shanmugasundram reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: 35718349; Phenotypes: TMEM63C-associated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM63A Achchuthan Shanmugasundram reviewed gene: TMEM63A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587869; Phenotypes: Transient Hypomyelination during Infancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM5 Achchuthan Shanmugasundram reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519211, 23217329; Phenotypes: SEVERE COBBLESTONE LISSENCEPHALY, OMIM:615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM260 Achchuthan Shanmugasundram reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318500; Phenotypes: Neurodevelopmental, Cardiac, and Renal Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM251 Achchuthan Shanmugasundram reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 33252156; Phenotypes: TMEM251-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM240 Achchuthan Shanmugasundram reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 30522958, 25070513, 29687291, 32705938, 26813285; Phenotypes: TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM237 Achchuthan Shanmugasundram reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603801, 14760273, 22152675; Phenotypes: JOUBERT SYNDROME 14, OMIM:614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM222 Achchuthan Shanmugasundram reviewed gene: TMEM222: Rating: GREEN; Mode of pathogenicity: ; Publications: 33824500; Phenotypes: TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM218 Achchuthan Shanmugasundram reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 35137054, 33791682; Phenotypes: TMEM218-associated ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM216 Achchuthan Shanmugasundram reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20512146, 20036350; Phenotypes: JOUBERT SYNDROME 2, OMIM:608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM199 Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833330; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM165 Achchuthan Shanmugasundram reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683087; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, OMIM:614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM163 Achchuthan Shanmugasundram reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35953447, 35455965; Phenotypes: TMEM163-related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM147 Achchuthan Shanmugasundram reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: 36044892; Phenotypes: TMEM147-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM135 Achchuthan Shanmugasundram reviewed gene: TMEM135: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM126B Achchuthan Shanmugasundram reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374774, 27374773; Phenotypes: Muscle Weakness and Isolated Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM114 Achchuthan Shanmugasundram reviewed gene: TMEM114: Rating: RED; Mode of pathogenicity: ; Publications: 17492639, 24357539; Phenotypes: CONGENITAL AND JUVENILE CATARACT, OMIM:611579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM106B Achchuthan Shanmugasundram reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29444210, 29186371; Phenotypes: TMEM106B related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMCO1 Achchuthan Shanmugasundram reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20018682; Phenotypes: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TM4SF20 Achchuthan Shanmugasundram reviewed gene: TM4SF20: Rating: RED; Mode of pathogenicity: ; Publications: 23810381; Phenotypes: SPECIFIC LANGUAGE IMPAIRMENT 5, OMIM:615432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TLL1 Achchuthan Shanmugasundram reviewed gene: TLL1: Rating: RED; Mode of pathogenicity: Other; Publications: 18830233; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TLK2 Achchuthan Shanmugasundram reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843, 29861108; Phenotypes: TLK2 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TKT Achchuthan Shanmugasundram reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259054; Phenotypes: Short Stature, Developmental Delay, and Congenital Heart Defects, OMIM:617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TKFC Achchuthan Shanmugasundram reviewed gene: TKFC: Rating: RED; Mode of pathogenicity: ; Publications: 32004446; Phenotypes: TKFC-related Cataracts and Multisystem Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TK2 Achchuthan Shanmugasundram reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TINF2 Achchuthan Shanmugasundram reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252230; Phenotypes: EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE, OMIM:268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TIMM8A Achchuthan Shanmugasundram reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31903733; Phenotypes: JENSEN SYNDROME, OMIM:311150; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 THUMPD1 Achchuthan Shanmugasundram reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: THUMPD1 neurodevelopment disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 THRA Achchuthan Shanmugasundram reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22494134, 22168587; Phenotypes: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, OMIM:614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 THOC6 Achchuthan Shanmugasundram reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23621916, 26739162, 27295358; Phenotypes: Beaulieu-Boycott-Innes syndrome, OMIM:613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 THOC2 Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26166480; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 THG1L Achchuthan Shanmugasundram reviewed gene: THG1L: Rating: RED; Mode of pathogenicity: Other; Publications: 30214071, 27307223, 31168944, 33682303; Phenotypes: THG1L-associated cerebellar ataxia, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 THAP1 Achchuthan Shanmugasundram reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30237473; Phenotypes: DYSTONIA 6, TORSION, OMIM:602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TH Achchuthan Shanmugasundram reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 10585338, 11246459, 8817341, 9703425, 17696123, 8528210, 9732974, 7814018; Phenotypes: DOPA-RESPONSIVE DYSTONIA, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TGIF1 Achchuthan Shanmugasundram reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFBR2 Achchuthan Shanmugasundram reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM:610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFBR1 Achchuthan Shanmugasundram reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16791849, 16928994, 18070134, 16596670, 15731757; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFB3 Achchuthan Shanmugasundram reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24798638; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFB2 Achchuthan Shanmugasundram reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFB1 Achchuthan Shanmugasundram reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062463, 15103729, 10973241; Phenotypes: CAMURATI-ENGELMANN DISEASE, OMIM:131300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGDS Achchuthan Shanmugasundram reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25480037; Phenotypes: CATEL-MANZKE SYNDROME, OMIM:616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TFRC Achchuthan Shanmugasundram reviewed gene: TFRC: Rating: RED; Mode of pathogenicity: Other; Publications: 26642240; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TFE3 Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 TFAP2B Achchuthan Shanmugasundram reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10802654, 11505339, 7645594; Phenotypes: CHAR SYNDROME, OMIM:169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TFAP2A Achchuthan Shanmugasundram reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31490282; Phenotypes: BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TET3 Achchuthan Shanmugasundram reviewed gene: TET3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31928709; Phenotypes: TET3 DNA Demethylation Disorder biallelic, TET3 DNA Demethylation Disorder monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 TERT Achchuthan Shanmugasundram reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17785587; Phenotypes: Dyskeratosis congenita, autosomal recessive 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TERC Achchuthan Shanmugasundram reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 12090986; Phenotypes: Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TELO2 Achchuthan Shanmugasundram reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132593, 36797513, 28944240; Phenotypes: TELO2 Syndromic Intellectual Disability Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TEK Achchuthan Shanmugasundram reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7833915, 10369874, 19888299; Phenotypes: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TECPR2 Achchuthan Shanmugasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176824; Phenotypes: HEREDITARY SPASTIC PARAPARESIS, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TDRD7 Achchuthan Shanmugasundram reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCTN3 Achchuthan Shanmugasundram reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: MOHR-MAJEWSKI SYNDROME, OMIM:258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCTN2 Achchuthan Shanmugasundram reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME AND RELATED DISORDERS, OMIM:194263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCTN1 Achchuthan Shanmugasundram reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME AND RELATED DISORDERS, OMIM:194263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCOF1 Achchuthan Shanmugasundram reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15039977, 14598341, 12114482, 9096354, 15214011, 11013442, 8563749; Phenotypes: TREACHER COLLINS SYNDROME TYPE 1, OMIM:154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCN2 Achchuthan Shanmugasundram reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7849710; Phenotypes: Transcobalamin II deficiency, OMIM:275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCF7L2 Achchuthan Shanmugasundram reviewed gene: TCF7L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34003604, 33057194; Phenotypes: TCF7L2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCF4 Achchuthan Shanmugasundram reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29604340, 17436254, 22670824, 20184619, 18728071, 19938247, 17436255, 22045651, 20205897, 27132474, 30848346, 29695756, 23528641, 19235238; Phenotypes: PITT-HOPKINS SYNDROME, OMIM:610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCF20 Achchuthan Shanmugasundram reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819258, 25228304, 30739909, 28135719, 27436265; Phenotypes: TCF20 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCF12 Achchuthan Shanmugasundram reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354436, 33004838; Phenotypes: TCF12-related neurodevelopmental disorder with coronal craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCEAL1 Achchuthan Shanmugasundram reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36368327; Phenotypes: TCEAL1-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TBXAS1 Achchuthan Shanmugasundram reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBX5 Achchuthan Shanmugasundram reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLT-ORAM SYNDROME, OMIM:142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX4 Achchuthan Shanmugasundram reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11303519, 15106123, 31761294; Phenotypes: SMALL PATELLA SYNDROME, OMIM:147891, Posterior Amelia with Pelvic and Pulmonary Hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX3 Achchuthan Shanmugasundram reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207801, 19938096, 12668170, 12116211; Phenotypes: ULNAR-MAMMARY SYNDROME, OMIM:181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX22 Achchuthan Shanmugasundram reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CLEFT PALATE, X-LINKED, OMIM:304011; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TBX20 Achchuthan Shanmugasundram reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 19762328, 17668378; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 4, OMIM:611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX18 Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235987; Phenotypes: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, OMIM:143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX15 Achchuthan Shanmugasundram reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: ; Publications: 24039145, 19068278; Phenotypes: Cousin Syndrome, Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature, OMIM:260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBX1 Achchuthan Shanmugasundram reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14585638; Phenotypes: 22Q11.2 DELETION SYNDROME, OMIM:188400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBR1 Achchuthan Shanmugasundram reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30268909, 23160955, 25232744, 32005960; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBL1XR1 Achchuthan Shanmugasundram reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25425123, 25102098, 29777588, 30365874, 26769062, 28687524, 23160955; Phenotypes: Pierpont syndrome, OMIM:602342, Intellectual disability with autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBCK Achchuthan Shanmugasundram reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: ; Publications: 27748029, 27040691, 27040692; Phenotypes: Severe Infantile Syndromic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBCE Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 12389028, 27666369; Phenotypes: Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBCD Achchuthan Shanmugasundram reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27666374, 27666370; Phenotypes: Early-Onset Neurodegenerative Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D2B Achchuthan Shanmugasundram reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36029130, 32623794; Phenotypes: TBC1D2B-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D24 Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: ; Publications: 20727515, 20797691, 10741954, 24291220; Phenotypes: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, OMIM:605021, DOORS SYNDROME, OMIM:220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D23 Achchuthan Shanmugasundram reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: 28823706, 28823707; Phenotypes: Non-degenerative Pontocerebellar Hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D20 Achchuthan Shanmugasundram reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM:615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAZ Achchuthan Shanmugasundram reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 8630491; Phenotypes: BARTH SYNDROME, OMIM:302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TAT Achchuthan Shanmugasundram reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1357662; Phenotypes: TYROSINEMIA TYPE 2, OMIM:276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TASP1 Achchuthan Shanmugasundram reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35512351, 31209944; Phenotypes: TASP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TARS Achchuthan Shanmugasundram reviewed gene: TARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31374204; Phenotypes: Non-photosensitive trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAPT1 Achchuthan Shanmugasundram reviewed gene: TAPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365339; Phenotypes: COMPLEX LETHAL OSTEOCHONDRODYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAOK1 Achchuthan Shanmugasundram reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230721, 33565190; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TANGO2 Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 26805781; Phenotypes: Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TANC2 Achchuthan Shanmugasundram reviewed gene: TANC2: Rating: RED; Mode of pathogenicity: ; Publications: 31616000; Phenotypes: TANC2-related neurodevelopmental and psychiatric disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TAF8 Achchuthan Shanmugasundram reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 35759269; Phenotypes: TAF8-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAF4 Achchuthan Shanmugasundram reviewed gene: TAF4: Rating: RED; Mode of pathogenicity: ; Publications: 35904126; Phenotypes: TAF4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TAF2 Achchuthan Shanmugasundram reviewed gene: TAF2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAF13 Achchuthan Shanmugasundram reviewed gene: TAF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257693; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAF1 Achchuthan Shanmugasundram reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26637982; Phenotypes: Dysmorphic Features, Intellectual Disability, and Neurological Manifestations; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TACR3 Achchuthan Shanmugasundram reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TACO1 Achchuthan Shanmugasundram reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAC3 Achchuthan Shanmugasundram reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAB2 Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 20493459; Phenotypes: CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SZT2 Achchuthan Shanmugasundram reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23932106; Phenotypes: INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SYT2 Achchuthan Shanmugasundram reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32250532, 32776697; Phenotypes: SYT2-related congenital onset presynaptic myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SYT1 Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30107533, 25705886; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SYP Achchuthan Shanmugasundram reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYP-RELATED, OMIM:300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SYNGAP1 Achchuthan Shanmugasundram reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30685520, 26110312, 23141534, 26079862, 23161826, 30572772, 21237447, 19196676, 23033978, 28721930, 30800045, 28576131, 26989088, 31395010, 30556619, 23708187, 29381230; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 5, OMIM:612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SYNE1 Achchuthan Shanmugasundram reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SYNCRIP Achchuthan Shanmugasundram reviewed gene: SYNCRIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SYNCRIP-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SYN1 Achchuthan Shanmugasundram reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OMIM:300491; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SUZ12 Achchuthan Shanmugasundram reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28229514, 30019515, 31736240; Phenotypes: Weaver-like overgrowth syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SURF1 Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SUPT16H Achchuthan Shanmugasundram reviewed gene: SUPT16H: Rating: RED; Mode of pathogenicity: Other; Publications: 31924697; Phenotypes: SUPT16H-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SUOX Achchuthan Shanmugasundram reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 34117075, 33405344, 34025712, 12112661, 15952210; Phenotypes: Sulfite oxidase deficiency, OMIM:272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SUMO1 Achchuthan Shanmugasundram reviewed gene: SUMO1: Rating: RED; Mode of pathogenicity: ; Publications: 16990542; Phenotypes: CLEFT LIP +/- CLEFT PALATE, OMIM:608874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SUMF1 Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21224894, 12757705, 12757706; Phenotypes: SULFATIDOSIS, JUVENILE, AUSTIN TYPE, OMIM:272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SUFU Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28965847, 34675124, 33024317; Phenotypes: Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SUCLG1 Achchuthan Shanmugasundram reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FATAL INFANTILE LACTIC ACIDOSIS, OMIM:308078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STXBP1 Achchuthan Shanmugasundram reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469812, 29929108, 27069701, 25714420, 30654231, 21770924, 31387522, 24315539, 29544889, 29264391, 26212315, 32105008, 26384463, 19557857, 24170257, 29718889, 24095819, 27184330, 28944233, 29896790, 20876469, 26865513, 24623842, 31344879, 21204804, 20887364, 22596016, 25418441, 23533165, 24189369, 26514728, 23763664, 21762454, 23409955, 21364700, 21062273, 23531706, 25631041; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4, OMIM:612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STX1B Achchuthan Shanmugasundram reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25362483; Phenotypes: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, OMIM:616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STT3B Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 23842455; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STT3A Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23842455, 34653363; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596, STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STS Achchuthan Shanmugasundram reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1539590, 9252398, 3032454; Phenotypes: ICHTHYOSIS, X-LINKED, OMIM:308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 STRADA Achchuthan Shanmugasundram reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27170158, 33247513, 17522105, 30311510; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STRA6 Achchuthan Shanmugasundram reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19839040, 11857549, 17273977, 21901792, 17503335; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 9, OMIM:601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STN1 Achchuthan Shanmugasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STIM1 Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: RED; Mode of pathogenicity: Other; Publications: 23332920; Phenotypes: TUBULAR-AGGREGATE MYOPATHY, OMIM:160565; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STIL Achchuthan Shanmugasundram reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19215732; Phenotypes: MICROCEPHALY PRIMARY TYPE 7, OMIM:612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAT5B Achchuthan Shanmugasundram reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 13679528; Phenotypes: GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, OMIM:245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAT2 Achchuthan Shanmugasundram reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: 26408653, 26122121; Phenotypes: Recessive gain of function causing increased interferon signalling, Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAR Achchuthan Shanmugasundram reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634702, 8948562, 16968793, 9141542, 7892608, 15546900, 14764819, 10566637, 10323391; Phenotypes: CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA, OMIM:201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAMBP Achchuthan Shanmugasundram reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23542699; Phenotypes: MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME, OMIM:614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAG2 Achchuthan Shanmugasundram reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30158690, 29263825, 28296084; Phenotypes: STAG2-related developmental delay with microcephaly and congenital anomalies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 STAG1 Achchuthan Shanmugasundram reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30158690, 28119487; Phenotypes: STAG1 syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STAC3 Achchuthan Shanmugasundram reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777491, 33820833, 30168660, 33060286, 28411587; Phenotypes: STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ST3GAL5 Achchuthan Shanmugasundram reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 30691927, 24026681, 27232954, 15502825, 30185102; Phenotypes: AMISH INFANTILE EPILEPSY SYNDROME, OMIM:609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ST3GAL3 Achchuthan Shanmugasundram reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21907012, 17120046; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ST14 Achchuthan Shanmugasundram reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18445049, 17273967; Phenotypes: ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SRY Achchuthan Shanmugasundram reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: ; Publications: 8105086, 1639410, 2247151, 9150734, 1956279, 1339396, 7987333, 2247149, 7985018, 1483689, 9443877, 10852465, 9521592, 1619028, 1570829, 12107262; Phenotypes: 46XY SEX REVERSAL 1, OMIM:400045; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SRSF1 Achchuthan Shanmugasundram reviewed gene: SRSF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SRSF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRRM2 Achchuthan Shanmugasundram reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35567594; Phenotypes: SRRM2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRPX2 Achchuthan Shanmugasundram reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: Other; Publications: 16497722; Phenotypes: BILATERAL PERISYLVIAN POLYMICROGYRIA, OMIM:300388; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SRP54 Achchuthan Shanmugasundram reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRGAP3 Achchuthan Shanmugasundram reviewed gene: SRGAP3: Rating: RED; Mode of pathogenicity: ; Publications: 12195014; Phenotypes: SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3, OMIM:606525; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRD5A3 Achchuthan Shanmugasundram reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20637498, 30019980, 18271001; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SRCAP Achchuthan Shanmugasundram reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909990, 23621943, 30425916, 22265015, 30304910, 24375913, 23763483, 22965468, 23165645, 25433523, 26788936; Phenotypes: FLOATING-HARBOR SYNDROME, OMIM:136140, SRCAP-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPTLC2 Achchuthan Shanmugasundram reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPTBN4 Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28540413, 29861105, 28940097, 31857255, 31230720; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPTBN2 Achchuthan Shanmugasundram reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29795474, 22914369, 25981959; Phenotypes: SCA14, Infantile ataxia with oculomotor and pyramidal signs; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SPTBN1 Achchuthan Shanmugasundram reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34211179, 33847457; Phenotypes: SPTBN1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPTAN1 Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36331550, 34590414, 22258530, 20493457, 29050398; Phenotypes: SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia, OMIM:613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPRY1 Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: Other; Publications: 36543535; Phenotypes: SPRY1-associated craniosynostosis with inner ear and renal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPRTN Achchuthan Shanmugasundram reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: PROGEROID SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPRED2 Achchuthan Shanmugasundram reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626534; Phenotypes: SPRED2-related Noonan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPRED1 Achchuthan Shanmugasundram reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776, 19443465, 21649642, 19366998; Phenotypes: LEGIUS SYNDROME, OMIM:611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPR Achchuthan Shanmugasundram reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11443547; Phenotypes: DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, OMIM:612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPOP Achchuthan Shanmugasundram reviewed gene: SPOP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32109420; Phenotypes: SPOP-related Neurodevelopmental Disorder, gain of function, SPOP-related Neurodevelopmental Disorder, dominant negative; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPG11 Achchuthan Shanmugasundram reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19194956, 17322883, 18067136, 17717710; Phenotypes: SPASTIC PARAPLEGIA-11, OMIM:604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPEN Achchuthan Shanmugasundram reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411, 33057194; Phenotypes: SPEN-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPEG Achchuthan Shanmugasundram reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY, OMIM:615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPECC1L Achchuthan Shanmugasundram reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21703590, 2541274; Phenotypes: FACIAL CLEFTING, OBLIQUE, 1, OMIM:600251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPATA5L1 Achchuthan Shanmugasundram reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626583; Phenotypes: SPATA5L1-associated sensorineural hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPATA5 Achchuthan Shanmugasundram reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299366; Phenotypes: EPILEPSY, HEARING LOSS, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPAST Achchuthan Shanmugasundram reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPAST-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPARC Achchuthan Shanmugasundram reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26027498; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPAG1 Achchuthan Shanmugasundram reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24055112; Phenotypes: PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SOX9 Achchuthan Shanmugasundram reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 11323423, 11754051, 10951468, 12783851, 8894698, 7990924, 7485151, 8001137, 19449405, 11076045; Phenotypes: PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA, OMIM:114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX6 Achchuthan Shanmugasundram reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 32442410; Phenotypes: SOX6-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX5 Achchuthan Shanmugasundram reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290657, 36861937; Phenotypes: 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX4 Achchuthan Shanmugasundram reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35232796, 30661772; Phenotypes: Neurodevelopmental Disease Associated with Mild Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX3 Achchuthan Shanmugasundram reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8826446; Phenotypes: SEX REVERSAL TYPE 3, OMIM:300833, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY, OMIM:300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SOX2 Achchuthan Shanmugasundram reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16145681, 15389708, 21326281, 18831064, 16283891, 12002146, 12612584, 15346919, 17219395, 15812812, 16932809, 16543359, 21919124, 19254784, 16470798; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 3, OMIM:206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX17 Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20960469; Phenotypes: VESICOURETERAL REFLUX TYPE 3, OMIM:613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX11 Achchuthan Shanmugasundram reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 35341651, 26543203, 24886874; Phenotypes: SOX11-related neurodevelopmental disorder, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX10 Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18627047, 8911608, 21965087, 11026454, 10482261, 18348274, 23643381, 12447940, 9462749, 18348267, 19764030, 17999358, 19208381, 10077527, 20478267, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, OMIM:609136, WAARDENBURG SYNDROME TYPE 2E, OMIM:611584, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, OMIM:601706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOS2 Achchuthan Shanmugasundram reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26173643, 25795793, 32788663; Phenotypes: SOS-2 associated Noonan syndrome, OMIM:616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOS1 Achchuthan Shanmugasundram reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19438935, 17143285, 18925667; Phenotypes: NOONAN SYNDROME 4, OMIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SON Achchuthan Shanmugasundram reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545676, 27545680; Phenotypes: Intellectual Disability, Congenital Malformations, and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOBP Achchuthan Shanmugasundram reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: ; Publications: 21035105; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS, OMIM:613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNX3 Achchuthan Shanmugasundram reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: ; Publications: 12471201; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 8, OMIM:601349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SNX14 Achchuthan Shanmugasundram reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNRPE Achchuthan Shanmugasundram reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36814386, 23246290, 9621144; Phenotypes: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SNRPB Achchuthan Shanmugasundram reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRO-COSTO-MANDIBULAR SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SNORD118 Achchuthan Shanmugasundram reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: 27793341, 27571260; Phenotypes: Leukoencephalopathy with cerebral calcification & cysts, OMIM:614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNIP1 Achchuthan Shanmugasundram reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNAP29 Achchuthan Shanmugasundram reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: ; Publications: 15968592, 21073448; Phenotypes: CEDNIK SYNDROME, OMIM:609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNAP25 Achchuthan Shanmugasundram reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 33299146, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMS Achchuthan Shanmugasundram reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19206178, 5823961, 18550699; Phenotypes: SNYDER-ROBINSON SYNDROME, OMIM:309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SMPD4 Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31495489; Phenotypes: Developmental Disorder with Microcephaly and Congenital Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMPD1 Achchuthan Shanmugasundram reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19405096, 2023926, 8401540, 12607113, 9266408, 12369017, 1301192, 1718266, 1885770, 8051942, 1391960; Phenotypes: NIEMANN-PICK DISEASE TYPE A, OMIM:257200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMOC2 Achchuthan Shanmugasundram reviewed gene: SMOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22152679; Phenotypes: DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, OMIM:125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMOC1 Achchuthan Shanmugasundram reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19208380, 21194678; Phenotypes: OPHTHALMOACROMELIC SYNDROME, OMIM:206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMO Achchuthan Shanmugasundram reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: 32413283; Phenotypes: Curry-Jones Syndrome, OMIM:601707, SMO-related developmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SMG9 Achchuthan Shanmugasundram reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27018474, 35087184; Phenotypes: SMG9 Multiple Congenital Anomaly Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMG8 Achchuthan Shanmugasundram reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396; Phenotypes: SMG8-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMCHD1 Achchuthan Shanmugasundram reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28067909, 28067911; Phenotypes: Isolated Arhinia/Bosma Arhinia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMC5 Achchuthan Shanmugasundram reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333305; Phenotypes: SMC5-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMC3 Achchuthan Shanmugasundram reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17273969, 25125236, 25655089, 20358602; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMC1A Achchuthan Shanmugasundram reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273969, 28548707, 24124034, 28102598, 31185419, 22106055, 26358754, 20635401, 28677859, 16604071, 31098032, 28166369, 26386245, 26354354, 26752331; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 2, OMIM:300590, SMC1A-related Epileptic Encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SMARCE1 Achchuthan Shanmugasundram reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22426308; Phenotypes: COFFIN SIRIS, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCD1 Achchuthan Shanmugasundram reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30879640; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCC2 Achchuthan Shanmugasundram reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30580808; Phenotypes: Syndromic Intellectual Disability and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCB1 Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9671307, 22726846, 25249037, 23906836, 22426308, 10739763, 10521299, 23929686, 23815551, 29907796; Phenotypes: EHMT1-like SYNDROME, RHABDOID PREDISPOSITION SYNDROME 1, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCAL1 Achchuthan Shanmugasundram reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799392, 15523612; Phenotypes: SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMARCA4 Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137775; Phenotypes: COFFIN SIRIS, OMIM:135900, RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCA2 Achchuthan Shanmugasundram reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22366787, 22426308, 32694869; Phenotypes: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD6 Achchuthan Shanmugasundram reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 27606499, 28808027; Phenotypes: Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD4 Achchuthan Shanmugasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050, MYHRE SYNDROME, OMIM:139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD3 Achchuthan Shanmugasundram reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29392890, 21217753; Phenotypes: SMAD3-RELATED LOEYS-DIETZ SYNDROME, OMIM:319643; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD2 Achchuthan Shanmugasundram reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: ; Publications: 30157302, 23665959; Phenotypes: CONGENITAL HEART DISEASE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLX4 Achchuthan Shanmugasundram reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240275, 21240277; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP P, OMIM:613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLIRP Achchuthan Shanmugasundram reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: ; Publications: 34426662; Phenotypes: SLIRP-related mitochondrial encephalomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLF2 Achchuthan Shanmugasundram reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333305; Phenotypes: SLF2-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC9A9 Achchuthan Shanmugasundram reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 16, OMIM:613410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC9A7 Achchuthan Shanmugasundram reviewed gene: SLC9A7: Rating: RED; Mode of pathogenicity: Other; Publications: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM:301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC9A6 Achchuthan Shanmugasundram reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20395263, 10528855, 18342287; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CHRISTIANSON TYPE, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC6A9 Achchuthan Shanmugasundram reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773429; Phenotypes: Glycine Encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A8 Achchuthan Shanmugasundram reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16086185, 11326334, 16738945, 12210795, 17101918, 11898126, 15154114; Phenotypes: X-LINKED CREATINE DEFICIENCY SYNDROME, OMIM:300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC6A5 Achchuthan Shanmugasundram reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPEREKPLEXIA, OMIM:149400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A3 Achchuthan Shanmugasundram reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSONISM-DYSTONIA, INFANTILE, OMIM:319029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A17 Achchuthan Shanmugasundram reviewed gene: SLC6A17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25704603; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A1 Achchuthan Shanmugasundram reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31176687, 34006619, 25865495, 29961511, 29315614, 27600546, 30132828, 31516630; Phenotypes: EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC5A7 Achchuthan Shanmugasundram reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27569547; Phenotypes: Congenital Myasthenic Syndrome with Episodic Apnea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC5A6 Achchuthan Shanmugasundram reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 27904971, 31754459, 35013551; Phenotypes: SLC5A6-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC5A5 Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9486973, 9388506, 9171822, 3998954, 3451231, 9745458; Phenotypes: THYROID HORMONOGENESIS DEFECT I, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC52A3 Achchuthan Shanmugasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21110228, 16122634, 20920669, 20206331; Phenotypes: BROWN-VIALETTO-VAN LAERE SYNDROME, OMIM:211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC52A2 Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC4A4 Achchuthan Shanmugasundram reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11274232, 10545938; Phenotypes: PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES, OMIM:604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC4A11 Achchuthan Shanmugasundram reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SLC4A11-related corneal endothelial dystrophy with or without deafness, OMIM:217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC4A1 Achchuthan Shanmugasundram reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SLC46A1 Achchuthan Shanmugasundram reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11804211, 20795774, 17446347, 21333572, 18559978, 11807405; Phenotypes: HEREDITARY FOLATE MALABSORPTION, OMIM:229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC45A1 Achchuthan Shanmugasundram reviewed gene: SLC45A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28434495; Phenotypes: Intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC39A8 Achchuthan Shanmugasundram reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637978, 26637979; Phenotypes: Intellectual Disability with Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC39A13 Achchuthan Shanmugasundram reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513683, 18985159; Phenotypes: EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA, OMIM:612350, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION, OMIM:601668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC38A3 Achchuthan Shanmugasundram reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34605855, 36539921; Phenotypes: SLC38A3-associated epileptic encephalopathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC37A4 Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758626, 21629566, 28224773, 9428641, 24385852, 31617422, 31508908, 33728255, 32005221, 19579760, 25804016, 33964207; Phenotypes: SLC37A4-related congenital disorder of glycosylation with liver dysfunction, Glycogen storage disease Ib, OMIM:232220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SLC35D1 Achchuthan Shanmugasundram reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35934917, 19508970, 17952091, 11200994; Phenotypes: SCHNECKENBECKEN DYSPLASIA, OMIM:269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC35C1 Achchuthan Shanmugasundram reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11326279, 11326280; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C, OMIM:266265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC35B2 Achchuthan Shanmugasundram reviewed gene: SLC35B2: Rating: RED; Mode of pathogenicity: Other; Publications: 35325049; Phenotypes: SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC35A2 Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24115232; Phenotypes: Epileptic Encephalopathy due to congenital disorder of glycosylation; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SLC35A1 Achchuthan Shanmugasundram reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15576474; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC33A1 Achchuthan Shanmugasundram reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC32A1 Achchuthan Shanmugasundram reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34038384, 36073542; Phenotypes: SLC32A1-associated developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC31A1 Achchuthan Shanmugasundram reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 35913762, 36562171; Phenotypes: SLC31A1-associated congenital copper transport disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC30A7 Achchuthan Shanmugasundram reviewed gene: SLC30A7: Rating: RED; Mode of pathogenicity: Other; Publications: 35751429; Phenotypes: SLC30A7-associated Joubert syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC2A2 Achchuthan Shanmugasundram reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9354798, 11044475; Phenotypes: FANCONI-BICKEL SYNDROME, OMIM:227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC2A10 Achchuthan Shanmugasundram reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14569121, 17935213, 16550171; Phenotypes: ARTERIAL TORTUOSITY SYNDROME, OMIM:208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC2A1 Achchuthan Shanmugasundram reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10980529, 1714544, 19630075, 14605501, 11136715, 19901175, 11603379, 9462754, 18403583, 18606970, 18577546, 18451999, 20221955; Phenotypes: Glucose Transporter Type 1 Deficiency Syndrome, OMIM:606777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC27A4 Achchuthan Shanmugasundram reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ICHTHYOSIS PREMATURITY SYNDROME, OMIM:608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC26A2 Achchuthan Shanmugasundram reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18925670, 10482955, 8571951, 7923357, 4644462, 12966518, 10466420, 8528239; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, OMIM:226900, ACHONDROGENESIS TYPE 1B, OMIM:600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A42 Achchuthan Shanmugasundram reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 29923093, 29327420, 26541337; Phenotypes: SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A4 Achchuthan Shanmugasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27693233, 30046662, 30329211; Phenotypes: Fontaine progeroid syndrome, Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC25A38 Achchuthan Shanmugasundram reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: 19412178; Phenotypes: ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, OMIM:205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A26 Achchuthan Shanmugasundram reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: 26522469; Phenotypes: INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A24 Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100094, 29100093; Phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC25A22 Achchuthan Shanmugasundram reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A20 Achchuthan Shanmugasundram reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: 9399886, 10697964, 9686371, 12859414, 10384384; Phenotypes: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OMIM:212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A19 Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12185364; Phenotypes: AMISH LETHAL MICROCEPHALY, OMIM:607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A15 Achchuthan Shanmugasundram reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: ; Publications: 11355015, 10369256, 19242930, 16940241, 11552031; Phenotypes: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME, OMIM:238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A1 Achchuthan Shanmugasundram reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29226520, 27306203, 23561848; Phenotypes: SLC25A1-related Neurometabolic Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC24A4 Achchuthan Shanmugasundram reviewed gene: SLC24A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23375655; Phenotypes: AMELOGENESIS IMPERFECTA.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC24A1 Achchuthan Shanmugasundram reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: 20850105; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC22A5 Achchuthan Shanmugasundram reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916797, 2235122, 10480371, 15714519, 9634512, 3974805, 10425211, 10051646, 20027113, 9700603, 11058897; Phenotypes: SYSTEMIC PRIMARY CARNITINE DEFICIENCY, OMIM:212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC1A4 Achchuthan Shanmugasundram reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27193218, 26041762, 31763347, 34174466; Phenotypes: SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC1A2 Achchuthan Shanmugasundram reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC19A3 Achchuthan Shanmugasundram reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20065143, 19387023, 15871139; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2, OMIM:607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC17A5 Achchuthan Shanmugasundram reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10069709, 10947946, 10581036; Phenotypes: SALLA DISEASE, OMIM:604369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC16A2 Achchuthan Shanmugasundram reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8484404, 15488219, 1605231, 14661163, 15889350; Phenotypes: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY, OMIM:300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC13A5 Achchuthan Shanmugasundram reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24995870, 26384929; Phenotypes: EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC13A1 Achchuthan Shanmugasundram reviewed gene: SLC13A1: Rating: RED; Mode of pathogenicity: ; Publications: 36175384; Phenotypes: SLC13A1-associated hypersulfaturia and hyposulfatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC12A6 Achchuthan Shanmugasundram reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16606917, 21628467, 12368912, 17893295; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, OMIM:218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC12A5 Achchuthan Shanmugasundram reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28477354, 26333769, 27436767; Phenotypes: SLC12A5-related epilepsy of infancy with migrating focal seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC10A7 Achchuthan Shanmugasundram reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29878199, 30082715; Phenotypes: Chondrodysplasia with multiple dislocations and amelogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SKIV2L Achchuthan Shanmugasundram reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOHEPATOENTERIC SYNDROME 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SKI Achchuthan Shanmugasundram reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX6 Achchuthan Shanmugasundram reviewed gene: SIX6: Rating: RED; Mode of pathogenicity: Other; Publications: 15266624; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17357085; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX3 Achchuthan Shanmugasundram reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353631, 10369266, 19346217, 11039582, 17001667; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX1 Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15141091, 10777717, 12843324, 17637804; Phenotypes: BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389, Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIN3B Achchuthan Shanmugasundram reviewed gene: SIN3B: Rating: RED; Mode of pathogenicity: ; Publications: 33811806; Phenotypes: SIN3B-related syndromic intellectual disability and autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIN3A Achchuthan Shanmugasundram reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIM1 Achchuthan Shanmugasundram reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28472148, 23778139, 23778136; Phenotypes: Severe obesity with neurobehavioral features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIL1 Achchuthan Shanmugasundram reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17026626, 18285827, 20111056, 16282978, 16282977; Phenotypes: MARINESCO-SJOEGREN SYNDROME, OMIM:248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SIK1 Achchuthan Shanmugasundram reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25839329; Phenotypes: NEONATAL EPILEPSY SPECTRUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIAH1 Achchuthan Shanmugasundram reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32430360; Phenotypes: SIAH1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHROOM3 Achchuthan Shanmugasundram reviewed gene: SHROOM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25805808; Phenotypes: NEURAL TUBE DEFECT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHOX Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590292, 11403039, 12116254, 17935511, 9590293, 11889214, 15356038, 21712857, 11030412; Phenotypes: LANGER MESOMELIC DYSPLASIA, OMIM:249700, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
DDG2P v3.12 SHOC2 Achchuthan Shanmugasundram reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19684605; Phenotypes: NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OMIM:607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHMT2 Achchuthan Shanmugasundram reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33015733; Phenotypes: SHMT2-related neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SHH Achchuthan Shanmugasundram reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 11471164, 15103725, 12567406; Phenotypes: HOLOPROSENCEPHALY TYPE 3, OMIM:142945, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, OMIM:611638, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, OMIM:174500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHANK3 Achchuthan Shanmugasundram reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17173049, 22892527; Phenotypes: PHELAN-MCDERMID SYNDROME, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHANK2 Achchuthan Shanmugasundram reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20473310; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 17, OMIM:613436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHANK1 Achchuthan Shanmugasundram reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SH3PXD2B Achchuthan Shanmugasundram reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 7158646, 15523657; Phenotypes: FRANK-TER HAAR SYNDROME, OMIM:249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SH3BP2 Achchuthan Shanmugasundram reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: Other; Publications: 11381256; Phenotypes: Cherubism, OMIM:118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SGSH Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3A, OMIM:252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SF3B4 Achchuthan Shanmugasundram reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22541558; Phenotypes: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OMIM:154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD5 Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31656537, 28549204, 27375234, 28881385, 24680889, 25138099, 28905509; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD2 Achchuthan Shanmugasundram reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34978780, 27317772, 32710489, 24852293; Phenotypes: Rabin-Pappas syndrome, SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD1B Achchuthan Shanmugasundram reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32546566, 29322246; Phenotypes: SETD1B associated intellectual disability, epilepsy and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD1A Achchuthan Shanmugasundram reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETBP1 Achchuthan Shanmugasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20436468; Phenotypes: DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, OMIM:269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SET Achchuthan Shanmugasundram reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: ; Publications: 35122673, 29688601, 29907757, 28135719; Phenotypes: SET syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SERAC1 Achchuthan Shanmugasundram reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32346411, 27186703, 28505671, 27331002, 28778788, 28916646, 34326751, 23707711, 29205472, 31251474, 33613893; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEPSECS Achchuthan Shanmugasundram reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805434, 29464431, 26888482; Phenotypes: Pontocerebellar hypoplasia type 2D, OMIM:613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEMA6B Achchuthan Shanmugasundram reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34110594, 34017830, 33798445, 32169168, 34218423, 35604360, 34092044; Phenotypes: SEMA6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SEMA3A Achchuthan Shanmugasundram reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24124006, 33369061, 28075028; Phenotypes: SEMA3A-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SELENON Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 26841830, 15792869, 12192640, 28558865, 30642275, 23394784, 20937510, 32154989, 26780752, 29850975, 11528383, 15668457, 16498447, 28688748, 29172004, 31066047, 21670436, 28606403, 15961312, 25808192, 17951086; Phenotypes: SELENON-related myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SELENOI Achchuthan Shanmugasundram reviewed gene: SELENOI: Rating: GREEN; Mode of pathogenicity: ; Publications: 29500230, 28052917; Phenotypes: EPT1-related complex progressive hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SECISBP2 Achchuthan Shanmugasundram reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16228000; Phenotypes: THYROID HORMONE METABOLISM, ABNORMAL, OMIM:609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEC61A1 Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SEC24D Achchuthan Shanmugasundram reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683121; Phenotypes: SYNDROMIC OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEC23B Achchuthan Shanmugasundram reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19621418, 19561605; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, OMIM:224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEC23A Achchuthan Shanmugasundram reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: Other; Publications: 16980979; Phenotypes: CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SDHAF1 Achchuthan Shanmugasundram reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SDHA Achchuthan Shanmugasundram reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SDCCAG8 Achchuthan Shanmugasundram reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20835237, 22626039; Phenotypes: SENIOR-LOKEN SYNDROME 7, OMIM:613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCYL1 Achchuthan Shanmugasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCUBE3 Achchuthan Shanmugasundram reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33308444; Phenotypes: SCUBE3-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCRIB Achchuthan Shanmugasundram reviewed gene: SCRIB: Rating: RED; Mode of pathogenicity: ; Publications: 24140112; Phenotypes: 8Q24.3 DELETION-LIKE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCO2 Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCO1 Achchuthan Shanmugasundram reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCNM1 Achchuthan Shanmugasundram reviewed gene: SCNM1: Rating: RED; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: SCNM1-associated orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCN8A Achchuthan Shanmugasundram reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22365152, 16236810; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN4A Achchuthan Shanmugasundram reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 1310898, 1316765, 10599760, 10851391, 16890191, 1338909, 8388676, 17998485, 1659668, 19015492, 8580427, 11591859, 10369308, 15596759, 18203179, 1659948, 19015483, 10944223; Phenotypes: HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN3A Achchuthan Shanmugasundram reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18242854, 24157691; Phenotypes: Focal epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN2A Achchuthan Shanmugasundram reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25457084, 26291284, 31966371, 24579881, 31439038, 28489313, 31204721, 28379373, 19783390, 30062040, 16417554, 24814476, 28254201, 15028761, 26311622, 17386050, 23550958, 22591750, 19786696, 23988467, 24710820, 24659627, 30144217, 30203812, 25459969, 29635106, 23935176, 28709814, 23827426, 27781028, 25772804, 29625812; Phenotypes: NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN1B Achchuthan Shanmugasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17020904, 9697698, 12011299, 18464934; Phenotypes: BRUGADA SYNDROME 5, OMIM:612838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN1A Achchuthan Shanmugasundram reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16505326, 18680191, 12566275, 11359211, 21555645, 21753172, 17000989; Phenotypes: SCN1A-RELATED SEIZURE DISORDERS, OMIM:607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN11A Achchuthan Shanmugasundram reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24036948; Phenotypes: CONGENITAL INABILITY TO EXPERIENCE PAIN, EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCARF2 Achchuthan Shanmugasundram reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21108395; Phenotypes: VAN DEN ENDE-GUPTA SYNDROME, OMIM:600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCAPER Achchuthan Shanmugasundram reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCAF4 Achchuthan Shanmugasundram reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: SCAF4-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SC5D Achchuthan Shanmugasundram reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12189593, 12812989; Phenotypes: LATHOSTEROLOSIS, OMIM:607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SBDS Achchuthan Shanmugasundram reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHWACHMAN-DIAMOND SYNDROME, OMIM:260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SATB2 Achchuthan Shanmugasundram reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30848049, 31392730, 31021519, 30575289, 17377962, 31333717, 28151491, 29739092, 35838081, 29436146, 28211976, 28139846, 26596517, 28787087, 31420882, 24363063, 30648748, 25885067, 24301056, 27774744; Phenotypes: GLASS SYNDROME, OMIM:612313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SATB1 Achchuthan Shanmugasundram reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: SATB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SARS2 Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21255763, 33751860, 24034276; Phenotypes: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SARS Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28236339, 34570399, 36041817; Phenotypes: SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SAMHD1 Achchuthan Shanmugasundram reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AICARDI-GOUTIERES SYNDROME, OMIM:239588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SAMD9L Achchuthan Shanmugasundram reviewed gene: SAMD9L: Rating: RED; Mode of pathogenicity: Other; Publications: 27259050; Phenotypes: Ataxia-Pancytopenia Syndrome, OMIM:159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SAMD9 Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346228, 27182967; Phenotypes: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SALL4 Achchuthan Shanmugasundram reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17256792, 12395297, 26791099, 12393809; Phenotypes: DUANE-RADIAL RAY SYNDROME, OMIM:607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SALL1 Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18000979, 10533063, 9973281, 17431915, 14755477, 11484202, 10928856, 9425907; Phenotypes: TOWNES-BROCKS SYNDROME, OMIM:107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SACS Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655055; Phenotypes: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RYR3 Achchuthan Shanmugasundram reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: 25262651; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RYR2 Achchuthan Shanmugasundram reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: Other; Publications: 30170228; Phenotypes: RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RYR1 Achchuthan Shanmugasundram reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20839240; Phenotypes: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OMIM:255320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RUNX2 Achchuthan Shanmugasundram reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207800, 12081718, 12424590, 9182765, 10545612, 15952089, 10521292; Phenotypes: CLEIDOCRANIAL DYSPLASIA, OMIM:119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RUBCN Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RTTN Achchuthan Shanmugasundram reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26608784, 29883675, 22939636; Phenotypes: BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RTN4IP1 Achchuthan Shanmugasundram reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: EARLY-ONSET RECESSIVE OPTIC NEUROPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RTEL1 Achchuthan Shanmugasundram reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453664; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSRC1 Achchuthan Shanmugasundram reviewed gene: RSRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29522154, 32227164, 28640246; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPRY1 Achchuthan Shanmugasundram reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365341; Phenotypes: PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPO4 Achchuthan Shanmugasundram reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186469, 18070203, 17041604, 17914448, 4702713; Phenotypes: ANONYCHIA CONGENITA, OMIM:206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPO2 Achchuthan Shanmugasundram reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29769720; Phenotypes: Tetra-amelia with lung agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPH3 Achchuthan Shanmugasundram reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073779; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPH1 Achchuthan Shanmugasundram reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993197; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RRM2B Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23107649, 19616983, 28482374, 23968935, 17486094; Phenotypes: Mitochondrial depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RRM1 Achchuthan Shanmugasundram reviewed gene: RRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 35617047; Phenotypes: RRM1-related mitochondrial DNA depletion/deletions syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 RRAS2 Achchuthan Shanmugasundram reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130282, 24705357, 31130285; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RRAS Achchuthan Shanmugasundram reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705357; Phenotypes: ATYPICAL NOONAN SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPS6KA3 Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17717706, 10094187, 12439904, 8955270, 9887375, 9837815, 12558110, 10528858, 15214012, 14986828, 11992250; Phenotypes: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 RPS26 Achchuthan Shanmugasundram reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: 24942156, 24675553, 25946618, 31277601, 20116044; Phenotypes: DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPS23 Achchuthan Shanmugasundram reviewed gene: RPS23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257692; Phenotypes: Microcephaly, hearing loss, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPS19 Achchuthan Shanmugasundram reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RPS19-RELATED DIAMOND-BLACKFAN ANEMIA, OMIM:220176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL26 Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL13 Achchuthan Shanmugasundram reviewed gene: RPL13: Rating: RED; Mode of pathogenicity: Other; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL11 Achchuthan Shanmugasundram reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19191325, 19773262, 19061985; Phenotypes: Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL10 Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25846674, 29066376, 35876338, 25316788, 26290468; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RPGRIP1L Achchuthan Shanmugasundram reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 17558407, 17558409, 18565097, 19574260; Phenotypes: MECKEL SYNDROME TYPE 5, OMIM:611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RPGRIP1 Achchuthan Shanmugasundram reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920076, 11283794, 11528500; Phenotypes: LEBER CONGENITAL AMAUROSIS 6, OMIM:613826, CONE-ROD DYSTROPHY 13, OMIM:608194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RPE65 Achchuthan Shanmugasundram reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326927; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RORB Achchuthan Shanmugasundram reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27352968, 32162308, 33387058; Phenotypes: RORB-epilepsy and neurodevelopmental disorder, OMIM:618357, epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RORA Achchuthan Shanmugasundram reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656859; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ROR2 Achchuthan Shanmugasundram reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35344616, 15952209, 19533773, 10932187, 10986040, 19640924, 18831060, 10700182, 19461659, 10932186; Phenotypes: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1, OMIM:268310, BRACHYDACTYLY, TYPE B1, OMIM:113000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ROGDI Achchuthan Shanmugasundram reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: ; Publications: 3236364, 7625549, 16411202, 22482807, 8133980, 22424600; Phenotypes: KOHLSCHUTTER-TONZ SYNDROME, OMIM:226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ROBO4 Achchuthan Shanmugasundram reviewed gene: ROBO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30455415; Phenotypes: Bicuspid Aortic Valve and Aortic Aneurysm, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ROBO3 Achchuthan Shanmugasundram reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16525029, 15105459; Phenotypes: FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS, OMIM:607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNU4ATAC Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22581640, 21474761, 21474760, 17666473; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNU12 Achchuthan Shanmugasundram reviewed gene: RNU12: Rating: RED; Mode of pathogenicity: Other; Publications: 27863452, 34085356; Phenotypes: RNU12-related CDAGS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNPC3 Achchuthan Shanmugasundram reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35792517, 29866761, 32462814, 24480542, 33650182; Phenotypes: RNPC3-associated growth hormone deficiency and short stature, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNF168 Achchuthan Shanmugasundram reviewed gene: RNF168: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RIDDLE SYNDROME, OMIM:611943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNF135 Achchuthan Shanmugasundram reviewed gene: RNF135: Rating: RED; Mode of pathogenicity: ; Publications: 17632510; Phenotypes: MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, OMIM:614192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RNF13 Achchuthan Shanmugasundram reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RNF125 Achchuthan Shanmugasundram reviewed gene: RNF125: Rating: RED; Mode of pathogenicity: Other; Publications: 34196401, 25196541; Phenotypes: RNF125-related intellectual disability and macrocephaly, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RNF113A Achchuthan Shanmugasundram reviewed gene: RNF113A: Rating: RED; Mode of pathogenicity: ; Publications: 25612912; Phenotypes: X-LINKED TRICHOTHIODYSTROPHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RNASET2 Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, OMIM:612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNASEH2C Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 3, OMIM:610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNASEH2B Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 2, OMIM:610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNASEH2A Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15870678; Phenotypes: AICARDI-GOUTIERES SYNDROME 4, OMIM:610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RMRP Achchuthan Shanmugasundram reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARTILAGE-HAIR HYPOPLASIA, OMIM:250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RMND1 Achchuthan Shanmugasundram reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23022099; Phenotypes: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RMI1 Achchuthan Shanmugasundram reviewed gene: RMI1: Rating: RED; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RLIM Achchuthan Shanmugasundram reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RIT1 Achchuthan Shanmugasundram reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, OMIM:615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RIPK4 Achchuthan Shanmugasundram reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15264293, 22197488; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE, OMIM:263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RINT1 Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RIN2 Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RIMS2 Achchuthan Shanmugasundram reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32470375; Phenotypes: RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RHOBTB2 Achchuthan Shanmugasundram reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276004; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RGS7 Achchuthan Shanmugasundram reviewed gene: RGS7: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RFX6 Achchuthan Shanmugasundram reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 15592663, 19887127, 18512226, 20148032; Phenotypes: MARTINEZ-FRIAS SYNDROME, OMIM:601346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RFT1 Achchuthan Shanmugasundram reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18313027; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N, OMIM:612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RETREG1 Achchuthan Shanmugasundram reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19838196; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RET Achchuthan Shanmugasundram reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11788682; Phenotypes: MULTIPLE ENDOCRINE NEOPLASIA IIB, OMIM:162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 REST Achchuthan Shanmugasundram reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36509837; Phenotypes: REST-related gingival fibromatosis and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RERE Achchuthan Shanmugasundram reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27087320; Phenotypes: Phenocopy of Proximal 1p36 Deletions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RELN Achchuthan Shanmugasundram reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LISSENCEPHALY 2, OMIM:257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RECQL4 Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11754069, 12952869, 15964893, 12734318, 10319867, 20503338, 12838562, 9934984, 10678659, 9878247; Phenotypes: BALLER-GEROLD SYNDROME, OMIM:218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RBPJ Achchuthan Shanmugasundram reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22883147; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RBM8A Achchuthan Shanmugasundram reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22366785; Phenotypes: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, OMIM:274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RBM28 Achchuthan Shanmugasundram reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: Other; Publications: 18439547; Phenotypes: ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RBM10 Achchuthan Shanmugasundram reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451169, 5410571, 30189253, 30450804, 35645043; Phenotypes: TARP SYNDROME, OMIM:311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RBFOX1 Achchuthan Shanmugasundram reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: ; Publications: 26185613, 26749308; Phenotypes: RBFOX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RBBP8 Achchuthan Shanmugasundram reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26333564, 34270086, 21998596; Phenotypes: RBBP8-related microcephaly and intellectual disability, OMIM:251255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAX Achchuthan Shanmugasundram reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18783408, 14662654; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 3, OMIM:611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RASA1 Achchuthan Shanmugasundram reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: 18363760, 14639529; Phenotypes: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1, OMIM:608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RARS2 Achchuthan Shanmugasundram reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 6, OMIM:611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RARS Achchuthan Shanmugasundram reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28905880, 31814314; Phenotypes: RARS1 related hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RARB Achchuthan Shanmugasundram reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27120018, 24075189; Phenotypes: MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, Microphthalmia, syndromic 12, OMIM:615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 RAPSN Achchuthan Shanmugasundram reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11791205, 18179903; Phenotypes: FETAL AKINESIA DEFORMATION SEQUENCE, OMIM:208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAP1B Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: Other; Publications: 32627184, 26280580; Phenotypes: RAP1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RANBP2 Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: Other; Publications: 19118815; Phenotypes: ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RALGDS Achchuthan Shanmugasundram reviewed gene: RALGDS: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RALGAPA1 Achchuthan Shanmugasundram reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447; Phenotypes: RALGAPA1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RALA Achchuthan Shanmugasundram reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30500825; Phenotypes: RALA-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAI1 Achchuthan Shanmugasundram reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SMITH-MAGENIS SYNDROME, OMIM:182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAF1 Achchuthan Shanmugasundram reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17603483; Phenotypes: NOONAN SYNDROME 5, OMIM:611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAD51C Achchuthan Shanmugasundram reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAD51 Achchuthan Shanmugasundram reviewed gene: RAD51: Rating: RED; Mode of pathogenicity: ; Publications: 21242494; Phenotypes: MIRROR MOVEMENTS 2, OMIM:614508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAD50 Achchuthan Shanmugasundram reviewed gene: RAD50: Rating: RED; Mode of pathogenicity: ; Publications: 19409520; Phenotypes: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAD21 Achchuthan Shanmugasundram reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: 27882533, 30716475, 22633399, 32193685, 24378232, 30125677; Phenotypes: COHESINOPATHY, OMIM:614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAC3 Achchuthan Shanmugasundram reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30293988; Phenotypes: Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAC1 Achchuthan Shanmugasundram reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35139179, 28886345; Phenotypes: RAC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RABL6 Achchuthan Shanmugasundram reviewed gene: RABL6: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB3GAP2 Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532399, 29419336; Phenotypes: MARTSOLF SYNDROME, OMIM:212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB3GAP1 Achchuthan Shanmugasundram reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216543, 29675078, 10465117, 20512159, 15696165; Phenotypes: WARBURG MICRO SYNDROME TYPE 1, OMIM:600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB39B Achchuthan Shanmugasundram reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20159109, 25434005, 11050621; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 72 (MRX72) +/- PARKINSONS, OMIM:300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RAB23 Achchuthan Shanmugasundram reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: ; Publications: 17503333, 20358613; Phenotypes: ACROCEPHALOPOLYSYNDACTYLY TYPE 2, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB18 Achchuthan Shanmugasundram reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 29300443, 26063829, 21473985; Phenotypes: WARBURG MICRO SYNDROME TYPE 3, OMIM:614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB14 Achchuthan Shanmugasundram reviewed gene: RAB14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: RAB14-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAB11B Achchuthan Shanmugasundram reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29106825; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAB11A Achchuthan Shanmugasundram reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 QRICH1 Achchuthan Shanmugasundram reviewed gene: QRICH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28692176; Phenotypes: QRICH1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 QKI Achchuthan Shanmugasundram reviewed gene: QKI: Rating: RED; Mode of pathogenicity: ; Publications: 20082458; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 QDPR Achchuthan Shanmugasundram reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8326489, 2116088, 11153907, 9341885, 9744478; Phenotypes: BH4-DEFICIENT HYPERPHENYLALANINEMIA C, OMIM:261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 QARS Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24656866; Phenotypes: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYROXD1 Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYGL Achchuthan Shanmugasundram reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529348, 9536091; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE VI, OMIM:232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYCR2 Achchuthan Shanmugasundram reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25865492; Phenotypes: POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYCR1 Achchuthan Shanmugasundram reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19648921, 18304158, 11424136, 19576563, 18348262, 16045708; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, OMIM:612940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PXDN Achchuthan Shanmugasundram reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907015; Phenotypes: CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PUS7 Achchuthan Shanmugasundram reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526862; Phenotypes: Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PUS3 Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30697592, 32056211, 34415064, 31444731, 30308082, 27055666; Phenotypes: PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PUS1 Achchuthan Shanmugasundram reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32287105, 30588737, 17056637, 26556812, 25227147; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PURA Achchuthan Shanmugasundram reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: ; Publications: 31911028, 29150892, 25342064, 32089526, 29307761, 29097605, 27148565, 25439098; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PUF60 Achchuthan Shanmugasundram reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: ; Publications: 28327570, 27804958; Phenotypes: PUF60 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTS Achchuthan Shanmugasundram reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10220141, 8178819, 9450907; Phenotypes: 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY, OMIM:261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTRH2 Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31057140, 27129381, 25574476, 25558065, 28328138; Phenotypes: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTPRF Achchuthan Shanmugasundram reviewed gene: PTPRF: Rating: RED; Mode of pathogenicity: ; Publications: 24781087; Phenotypes: ATHELIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTPN14 Achchuthan Shanmugasundram reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20826270; Phenotypes: CHOANAL ATRESIA AND LYMPHEDEMA, OMIM:613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTPN11 Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19659470, 15520399, 21910226, 15384080, 24820750, 16733669, 12325025, 19864201, 22822385, 19768645, 19054014, 11992261, 23799168, 15240615, 27484170, 11704759, 24790373, 26377839, 25884655, 25917897, 17875892, 12529711, 12161469, 21365175, 19449407, 21747628, 21677813, 17927788; Phenotypes: LEOPARD SYNDROME TYPE 1, OMIM:151100, NOONAN SYNDROME 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTHLH Achchuthan Shanmugasundram reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170896; Phenotypes: CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, BRACHYDACTYLY, TYPE E2, OMIM:613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTH1R Achchuthan Shanmugasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 9745456, 8703170, 15240651, 17164305, 3975110, 7701349, 10487664, 15525660, 10523019, 19061984, 9649554; Phenotypes: PRIMARY FAILURE OF TOOTH ERUPTION, OMIM:125350, CHONDRODYSPLASIA BLOMSTRAND TYPE, OMIM:215045, JANSEN METAPHYSEAL CHONDRODYSPLASIA, OMIM:156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PTH Achchuthan Shanmugasundram reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: ; Publications: 3005800, 1302009, 10523031, 2212001; Phenotypes: FAMILIAL ISOLATED HYPOPARATHYROIDISM, OMIM:146200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTF1A Achchuthan Shanmugasundram reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15543146, 21749365, 10507728, 24212882; Phenotypes: PANCREATIC AGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, OMIM:609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9241266, 9467011, 17286265, 9259288, 11476841, 9425889, 9140396, 9832031, 10051160, 16704655, 12844284, 15805158, 12471211, 10353779, 10777358, 23160955, 11238682, 9832032; Phenotypes: PTEN Hamartoma Tumor Syndrome, PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTDSS1 Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTCHD1 Achchuthan Shanmugasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20844286; Phenotypes: AUTISM/ID, OMIM:300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PTCH1 Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8658145, 11941477, 8681379, 17001668, 22572734, 12900905; Phenotypes: BASAL CELL NEVUS SYNDROME, OMIM:109400, HOLOPROSENCEPHALY-7, OMIM:610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSPH Achchuthan Shanmugasundram reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152457, 14673469, 9222972; Phenotypes: NEU-LAXOVA, OMIM:256520, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, OMIM:614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PSMD12 Achchuthan Shanmugasundram reviewed gene: PSMD12: Rating: RED; Mode of pathogenicity: ; Publications: 28388435; Phenotypes: Global Developmental Delay, Multiple Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSMC5 Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: PSMC5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSMC1 Achchuthan Shanmugasundram reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35861243; Phenotypes: PSMC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSMB8 Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21881205, 21953331, 21852578, 21129723; Phenotypes: NAKAJO SYNDROME, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PSAT1 Achchuthan Shanmugasundram reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436247; Phenotypes: NEU-LAXOVA SYNDROME, OMIM:256520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PSAP Achchuthan Shanmugasundram reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15773042; Phenotypes: ATYPICAL KRABBE DISEASE, OMIM:611722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRUNE1 Achchuthan Shanmugasundram reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211990, 28334956; Phenotypes: PEHO Like condition; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRSS56 Achchuthan Shanmugasundram reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397065, 19526372; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 6, OMIM:613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRSS12 Achchuthan Shanmugasundram reviewed gene: PRSS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 12459588; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 1, OMIM:249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRRX1 Achchuthan Shanmugasundram reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: Other; Publications: 23444262, 22211708; Phenotypes: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, AGNATHIA-OTOCEPHALY COMPLEX biallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PRRT2 Achchuthan Shanmugasundram reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22543779, 21937992, 22243967, 22744660; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME, OMIM:602066; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PRR12 Achchuthan Shanmugasundram reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 26163108; Phenotypes: Intellectual disability and iris abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRPS1 Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246954, 17701896, 8498830, 6243137, 15240907, 7593598, 10503584, 171280, 17701900, 8968763, 2423135, 20021999; Phenotypes: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, OMIM:300661, DEAFNESS X-LINKED TYPE 1, OMIM:304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, OMIM:311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PRPF8 Achchuthan Shanmugasundram reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35543142, 29847639; Phenotypes: PRPF8-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PROSER1 Achchuthan Shanmugasundram reviewed gene: PROSER1: Rating: RED; Mode of pathogenicity: ; Publications: 35229282; Phenotypes: PROSER1-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PROP1 Achchuthan Shanmugasundram reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:262600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRMT9 Achchuthan Shanmugasundram reviewed gene: PRMT9: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRMT7 Achchuthan Shanmugasundram reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029; Phenotypes: Pseudohypoparathyroidism-like disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRKG2 Achchuthan Shanmugasundram reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34782440, 36504352, 33106379; Phenotypes: PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRKD1 Achchuthan Shanmugasundram reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Syndromic congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKAR1B Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 33833410; Phenotypes: PRKAR1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKAR1A Achchuthan Shanmugasundram reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464252, 22464250, 21651393; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKACB Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACB-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKACA Achchuthan Shanmugasundram reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACA-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRIM1 Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33060134; Phenotypes: PRIM1-related Primordial Dwarfism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PREPL Achchuthan Shanmugasundram reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24610330; Phenotypes: HYPOTONIA-CYSTINURIA SYNDROME, OMIM:606407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDX3 Achchuthan Shanmugasundram reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35766882; Phenotypes: PRDX3-associated cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDM6 Achchuthan Shanmugasundram reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: Other; Publications: 27181681; Phenotypes: Isolated Nonsyndromic Patent Ductus Arteriosus.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRDM15 Achchuthan Shanmugasundram reviewed gene: PRDM15: Rating: RED; Mode of pathogenicity: Other; Publications: 33593823; Phenotypes: PRDM15-related renal and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDM13 Achchuthan Shanmugasundram reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 35390279; Phenotypes: PRDM13-related olivopentocerebellar hypoplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDM12 Achchuthan Shanmugasundram reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: 26005867; Phenotypes: HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII, OMIM:616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PQBP1 Achchuthan Shanmugasundram reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 13981686, 14634649, 3177467, 7943045, 16493439, 16740914; Phenotypes: RENPENNING SYNDROME 1, OMIM:309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PPT1 Achchuthan Shanmugasundram reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, OMIM:256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP3CA Achchuthan Shanmugasundram reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942967; Phenotypes: Severe Neurodevelopmental Disease with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP2R5D Achchuthan Shanmugasundram reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25972378, 36216457, 25533962, 26576547; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP2R1A Achchuthan Shanmugasundram reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP2CA Achchuthan Shanmugasundram reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP1R21 Achchuthan Shanmugasundram reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 30520571, 28940097, 29808498, 32985083; Phenotypes: PPP1R21-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP1R15B Achchuthan Shanmugasundram reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: ; Publications: 26307080; Phenotypes: Severe microcephaly, short stature and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP1R13L Achchuthan Shanmugasundram reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32666529, 28069640; Phenotypes: PPP1R13L-related dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP1R12A Achchuthan Shanmugasundram reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP1CB Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPM1D Achchuthan Shanmugasundram reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 28135719, 28343630; Phenotypes: PPM1D syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPIL1 Achchuthan Shanmugasundram reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPFIBP1 Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30214071, 35830857; Phenotypes: PPFIBP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPA2 Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27523598, 27523597, 34400813; Phenotypes: Sudden arrhythmic cardiac death after infectious or alcohol trigger; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POU4F1 Achchuthan Shanmugasundram reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33783914; Phenotypes: POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POU3F3 Achchuthan Shanmugasundram reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31303265; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POU1F1 Achchuthan Shanmugasundram reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1509262, 12629113, 15928241, 2634610, 9626142, 1302000, 16968807, 8768831, 11297581, 1472057, 7670563; Phenotypes: POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POT1 Achchuthan Shanmugasundram reviewed gene: POT1: Rating: RED; Mode of pathogenicity: Other; Publications: 27013236; Phenotypes: Coats Plus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PORCN Achchuthan Shanmugasundram reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18325042, 17546031, 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, OMIM:305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 POMT2 Achchuthan Shanmugasundram reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 19138766, 17878207, 16701995, 17634419, 17923109, 15894594; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2, OMIM:613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMT1 Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053679, 19299310, 11320179, 17878207, 15037715, 14678799, 12369018, 31311558, 22549409, 16717220; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1, OMIM:236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMP Achchuthan Shanmugasundram reviewed gene: POMP: Rating: RED; Mode of pathogenicity: Other; Publications: 20226437; Phenotypes: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMK Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32907597, 31833209, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMGNT2 Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: WALKER WARBERG SYNDROME, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMGNT1 Achchuthan Shanmugasundram reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 12588800, 22419172, 17878207, 15236414, 11709191, 18195152, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3, OMIM:613157, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), OMIM:253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR3GL Achchuthan Shanmugasundram reviewed gene: POLR3GL: Rating: RED; Mode of pathogenicity: ; Publications: 31089205; Phenotypes: Endosteal Hyperostosis and Oligodontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR3B Achchuthan Shanmugasundram reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 33417887; Phenotypes: POLR3B-related neurodevelopmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, OMIM:614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 POLR3A Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21855841, 12605447, 22036171, 17159124, 30414627; Phenotypes: Autosomal Recessive Wiedemann Rautenstrauch Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR2A Achchuthan Shanmugasundram reviewed gene: POLR2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33665635, 35461703, 31353023; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLR1D Achchuthan Shanmugasundram reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976; Phenotypes: TREACHER COLLINS SYNDROME TYPE 2, OMIM:613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLR1C Achchuthan Shanmugasundram reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976, 32042905, 26151409; Phenotypes: POLR1C-related Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR1A Achchuthan Shanmugasundram reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OMIM:616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLE Achchuthan Shanmugasundram reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 30503519, 25948378, 35860951, 23230001; Phenotypes: IMAGe Syndrome with variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLD1 Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23770608; Phenotypes: SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLA1 Achchuthan Shanmugasundram reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31006512; Phenotypes: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 POGZ Achchuthan Shanmugasundram reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26942287, 25533962, 30879264, 27103995, 25694107, 26739615, 31782611, 31136090, 26763879, 32103003, 27148570, 28480548, 31347273; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POC1B Achchuthan Shanmugasundram reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25018096; Phenotypes: AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POC1A Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26336158, 22840364, 22440536, 22840363; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPT1 Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23084291; Phenotypes: RESPIRATORY CHAIN DISORDER, OMIM:614932, HEARING LOSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPO Achchuthan Shanmugasundram reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24266778, 26108646, 24645144, 25762494, 33981986, 24658933, 28818555, 27014579, 26303608, 26535729; Phenotypes: PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPLA6 Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574898, 24355708, 25480986; Phenotypes: PNPLA6-related Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPLA2 Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22832386, 17187067; Phenotypes: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPLA1 Achchuthan Shanmugasundram reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL ICHTHYOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNKP Achchuthan Shanmugasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728773, 20118933; Phenotypes: ATAXIA-OCULOMOTOR APRAXIA 4, OMIM:616267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PMS2 Achchuthan Shanmugasundram reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7661930, 26318770; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PMPCB Achchuthan Shanmugasundram reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576218; Phenotypes: Neurodegeneration in Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PMM2 Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 9887379, 10602363, 17307006, 10527672, 9781039, 9497260, 19235233, 9140401, 10801058, 11916319, 10922383; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLXND1 Achchuthan Shanmugasundram reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35396997, 24254849, 26068067; Phenotypes: MOEBIUS SYNDROME, PLXND1-related cardiac malformation syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLXNA1 Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: RED; Mode of pathogenicity: ; Publications: 34054129; Phenotypes: PLXNA1-associated neurodevelopmental disorder (biallelic), PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PLPBP Achchuthan Shanmugasundram reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044; Phenotypes: Vitamin-B6-Dependent Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLP1 Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9056547, 8723686, 1384324, 11071483, 8786077, 7573159, 14452137, 8659540, 7574457, 8956049, 2773936, 1715570, 1605230, 7683951, 1720927, 8320699, 9489796, 17438221, 8696336, 2480601, 3827224, 1707231; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 1, OMIM:312080, SPASTIC PARAPLEGIA X-LINKED TYPE 2, OMIM:312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PLOD3 Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: RED; Mode of pathogenicity: ; Publications: 18834968; Phenotypes: LYSYL HYDROXYLASE 3 DEFICIENCY, OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLOD2 Achchuthan Shanmugasundram reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35278031, 15523624; Phenotypes: BRUCK SYNDROME TYPE 2, OMIM:609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLOD1 Achchuthan Shanmugasundram reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8163671, 5016372, 1345174, 9450904; Phenotypes: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM, OMIM:225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLK4 Achchuthan Shanmugasundram reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25344692; Phenotypes: MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY, OMIM:616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLEC Achchuthan Shanmugasundram reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35579050; Phenotypes: Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy, OMIM:613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLCH1 Achchuthan Shanmugasundram reviewed gene: PLCH1: Rating: RED; Mode of pathogenicity: Other; Publications: 33820834; Phenotypes: HPE-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLCG2 Achchuthan Shanmugasundram reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: ; Publications: 23000145; Phenotypes: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, OMIM:614468, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED, OMIM:614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PLCE1 Achchuthan Shanmugasundram reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20591883, 17086182; Phenotypes: NEPHROTIC SYNDROME, TYPE 3, OMIM:610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLCB4 Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PLCB1 Achchuthan Shanmugasundram reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20833646; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OMIM:613722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLAA Achchuthan Shanmugasundram reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28413018; Phenotypes: Lethal Infantile Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLA2G6 Achchuthan Shanmugasundram reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PKHD1 Achchuthan Shanmugasundram reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19021639, 12506140, 11919560; Phenotypes: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, OMIM:263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PKD1L1 Achchuthan Shanmugasundram reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616478, 35691949; Phenotypes: Laterality defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PITX3 Achchuthan Shanmugasundram reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15286169; Phenotypes: ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PITX2 Achchuthan Shanmugasundram reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11301317, 15591271, 11487566, 7581385, 8944018, 22224469, 8942889; Phenotypes: RING DERMOID OF CORNEA, OMIM:180550, AXENFELD-RIEGER SYNDROME TYPE 1, OMIM:180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PITX1 Achchuthan Shanmugasundram reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18950742, 22258522; Phenotypes: HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS, CONGENITAL CLUBFOOT, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIP5K1C Achchuthan Shanmugasundram reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIK3R2 Achchuthan Shanmugasundram reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26860062, 22729224; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIK3R1 Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23810379, 28472977, 23810378, 22351933; Phenotypes: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, SHORT SYNDROME, OMIM:269880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PIK3CA Achchuthan Shanmugasundram reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22658544, 22729224; Phenotypes: HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIH1D3 Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PIGY Achchuthan Shanmugasundram reviewed gene: PIGY: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26293662; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: RED; Mode of pathogenicity: Other; Publications: 24367057; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGV Achchuthan Shanmugasundram reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17351347, 20802478; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGU Achchuthan Shanmugasundram reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31353022; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGT Achchuthan Shanmugasundram reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23636107, 24906948; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGS Achchuthan Shanmugasundram reviewed gene: PIGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269814; Phenotypes: Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGQ Achchuthan Shanmugasundram reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: SEVERE EARLY-ONSET EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGO Achchuthan Shanmugasundram reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683086; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 2, OMIM:614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGN Achchuthan Shanmugasundram reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21493957, 36322149; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGM Achchuthan Shanmugasundram reviewed gene: PIGM: Rating: RED; Mode of pathogenicity: Other; Publications: 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGL Achchuthan Shanmugasundram reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: ZUNICH NEUROECTODERMAL SYNDROME, OMIM:280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGK Achchuthan Shanmugasundram reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32220290; Phenotypes: PIGK-associated Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGH Achchuthan Shanmugasundram reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052; Phenotypes: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGG Achchuthan Shanmugasundram reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 26996948; Phenotypes: Intellectual Disability with Seizures and Hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGB Achchuthan Shanmugasundram reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 31256876; Phenotypes: Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGA Achchuthan Shanmugasundram reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305531; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OMIM:300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PIEZO2 Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PIEZO1 Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387913; Phenotypes: Congenital lymphatic dysplasia with hydrops and/or lymphoedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIDD1 Achchuthan Shanmugasundram reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379; Phenotypes: PIDD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIBF1 Achchuthan Shanmugasundram reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29695797, 26167768; Phenotypes: JOUBERT SYNDROME 33, OMIM:617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PI4KA Achchuthan Shanmugasundram reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 34415310, 34415322, 25855803; Phenotypes: PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PHOX2B Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16691592, 16888290, 12640453, 12438263, 15024693; Phenotypes: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, OMIM:209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PHIP Achchuthan Shanmugasundram reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 29209020; Phenotypes: Developmental delay, ID, obesity and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PHGDH Achchuthan Shanmugasundram reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11055895, 11034457, 24836451, 19235232; Phenotypes: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, OMIM:601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PHF8 Achchuthan Shanmugasundram reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398231, 17594395, 16199551, 17661819; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED SIDERIUS TYPE, OMIM:300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PHF6 Achchuthan Shanmugasundram reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 35662002, 15466013, 12415272, 15994862; Phenotypes: BOERJESON-FORSSMAN-LEHMANN SYNDROME, OMIM:301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 PHF21A Achchuthan Shanmugasundram reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36843358, 36876344; Phenotypes: POTOCKI-SHAFFER SYNDROME, OMIM:601224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PHC1 Achchuthan Shanmugasundram reviewed gene: PHC1: Rating: RED; Mode of pathogenicity: Other; Publications: 23418308; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PHACTR1 Achchuthan Shanmugasundram reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30256902; Phenotypes: PHACTR1-associated neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PGM3 Achchuthan Shanmugasundram reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24931394; Phenotypes: IMMUNODEFICIENCY 23, OMIM:615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGM2L1 Achchuthan Shanmugasundram reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33979636; Phenotypes: PGM2L1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGM1 Achchuthan Shanmugasundram reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19625727; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, OMIM:614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGK1 Achchuthan Shanmugasundram reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16567715, 9512313, 1586722, 8673469, 1547346, 6933565, 16740138, 19157875, 9744480, 6941312; Phenotypes: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OMIM:300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PGAP3 Achchuthan Shanmugasundram reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24439110; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 4, OMIM:615716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGAP2 Achchuthan Shanmugasundram reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGAP1 Achchuthan Shanmugasundram reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25804403, 26050939, 24784135; Phenotypes: Intellectual disability, encephalopathy, impaired GPI-anchor maturation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX7 Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9090381, 9090382, 10083738, 12325024, 9090383; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, OMIM:601757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX6 Achchuthan Shanmugasundram reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4, OMIM:601498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX5 Achchuthan Shanmugasundram reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX3 Achchuthan Shanmugasundram reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12, OMIM:603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX26 Achchuthan Shanmugasundram reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: 12851857; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX2 Achchuthan Shanmugasundram reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14630978, 10528859; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5, OMIM:170993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX19 Achchuthan Shanmugasundram reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX16 Achchuthan Shanmugasundram reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, OMIM:603360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX14 Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX13 Achchuthan Shanmugasundram reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, OMIM:601789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX12 Achchuthan Shanmugasundram reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, OMIM:601758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX11B Achchuthan Shanmugasundram reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B, OMIM:614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX10 Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7, OMIM:602859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX1 Achchuthan Shanmugasundram reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398847; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, OMIM:602136; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PET100 Achchuthan Shanmugasundram reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEPD Achchuthan Shanmugasundram reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 8900231, 1972707, 19308961, 17142620, 16470701, 2365824, 6637477, 15309682; Phenotypes: PROLIDASE DEFICIENCY, OMIM:170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PECR Achchuthan Shanmugasundram reviewed gene: PECR: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDSS2 Achchuthan Shanmugasundram reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186472; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 3, OMIM:614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDSS1 Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDIA6 Achchuthan Shanmugasundram reviewed gene: PDIA6: Rating: RED; Mode of pathogenicity: ; Publications: 33495992, 35856135; Phenotypes: PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDHX Achchuthan Shanmugasundram reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 17152059, 16566017, 11935326, 9399911, 8584393, 12557299, 8229524, 9467010; Phenotypes: LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDHA1 Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8199595, 1909778, 1909401, 3137520, 10486093, 1293379, 12379317, 9686362, 7573035, 1907799, 2378353, 2537010, 8771169, 8032855; Phenotypes: INTELLECTUAL DISABILTIY, OMIM:312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 PDGFRB Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30941910, 32291752, 29226947, 26279204, 28639748, 23731542, 25454926; Phenotypes: FAMILIAL INFANTILE MYOFIBROMATOSIS, OMIM:228550, KOSAKI OVERGROWTH SYNDROME, OMIM:616592, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OMIM:601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PDE6H Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDE6G Achchuthan Shanmugasundram reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: 20655036; Phenotypes: RETINITIS PIGMENTOSA 57, OMIM:613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDE4D Achchuthan Shanmugasundram reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464250, 22464252, 23033274; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PDE10A Achchuthan Shanmugasundram reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058447; Phenotypes: Childhood-Onset Chorea with Bilateral Striatal Lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PDCD10 Achchuthan Shanmugasundram reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380626, 15543491; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3, OMIM:603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PCYT2 Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32889549, 31637422; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCYT1A Achchuthan Shanmugasundram reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28272537, 24387990, 24387991; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OMIM:608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCNT Achchuthan Shanmugasundram reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18174396, 15372530, 19839044; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OMIM:210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCGF2 Achchuthan Shanmugasundram reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30526864; Phenotypes: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PCDHGC4 Achchuthan Shanmugasundram reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34244665; Phenotypes: PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCDH19 Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 PCDH12 Achchuthan Shanmugasundram reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804758, 27164683, 30178464, 29556033, 30459466; Phenotypes: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCCB Achchuthan Shanmugasundram reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCCA Achchuthan Shanmugasundram reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12189489, 8225321, 10101253, 8411997, 9683601, 9385377, 10820128, 9887338, 17966092, 8295402; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCBP2 Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PCBP2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PCBD1 Achchuthan Shanmugasundram reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585615, 8352282; Phenotypes: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, OMIM:264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PC Achchuthan Shanmugasundram reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585002, 9585612, 19306334, 12112657; Phenotypes: PYRUVATE CARBOXYLASE DEFICIENCY, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PBX1 Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451537; Phenotypes: PBX1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX9 Achchuthan Shanmugasundram reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TOOTH AGENESIS, SELECTIVE, 3, OMIM:604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX8 Achchuthan Shanmugasundram reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11232006, 15356023, 11502839, 15718293, 9590296; Phenotypes: CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2, OMIM:218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX6 Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17595013, 7668281, 12721955, 9931324, 15629294, 17148041; Phenotypes: ANIRIDIA, OMIM:106210, PETERS ANOMALY, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX3 Achchuthan Shanmugasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20478267, 8490648, 7726174, 8664898, 1347148, 35607853, 26443304, 12949970, 14556253, 1303193, 1308353, 8447316, 1887852; Phenotypes: Waardenburg syndrome type 3, WAARDENBURG SYNDROME, TYPE 1, OMIM:193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PAX2 Achchuthan Shanmugasundram reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3377002, 9106533, 9760197, 2644560, 7795640, 11461952, 11093271; Phenotypes: RENAL-COLOBOMA SYNDROME, OMIM:120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX1 Achchuthan Shanmugasundram reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 28657137, 29681087; Phenotypes: OTOFACIOCERVICAL SYNDROME, OMIM:166780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PARP1 Achchuthan Shanmugasundram reviewed gene: PARP1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PARN Achchuthan Shanmugasundram reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25893599; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAPSS2 Achchuthan Shanmugasundram reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9714015, 22791835, 19474428; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE, OMIM:612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAN2 Achchuthan Shanmugasundram reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35304602; Phenotypes: PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PALB2 Achchuthan Shanmugasundram reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672, 17200671; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, OMIM:610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAK3 Achchuthan Shanmugasundram reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12884430, 18523455, 8826460, 17853471, 24556213, 9332663; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 30, OMIM:300558, AGENESIS OF THE CORPUS CALLOSUM; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PAK1 Achchuthan Shanmugasundram reviewed gene: PAK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290153; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAH Achchuthan Shanmugasundram reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 1671810, 2816939, 8098245, 1975559, 1301200, 1301947, 8829656, 1301201, 2840952, 2014802, 1709636, 2044609, 2564729, 8097261, 11935335, 2035532, 2573272, 2071149, 2309142, 9950317, 1769645, 1671881, 1360590, 1997387, 1363838, 3008810, 1301193, 1363837, 1312992, 7981714, 1358789, 8364546, 1349576, 2606484, 2574002, 1682235, 2884570, 1679030, 8088845; Phenotypes: NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA, OMIM:261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAFAH1B1 Achchuthan Shanmugasundram reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15007136, 10441340, 11502906, 14581661; Phenotypes: LISSENCEPHALY TYPE 1, OMIM:607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PACS2 Achchuthan Shanmugasundram reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28867141, 30290155; Phenotypes: Unspecified Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PACS1 Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23159249; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 P4HTM Achchuthan Shanmugasundram reviewed gene: P4HTM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35908151, 34285383, 30940925, 32965080; Phenotypes: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 P4HB Achchuthan Shanmugasundram reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25683117; Phenotypes: COLE-CARPENTER SYNDROME, OMIM:112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 P3H1 Achchuthan Shanmugasundram reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19088120, 17277775; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE VIII, OMIM:610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OXR1 Achchuthan Shanmugasundram reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785787; Phenotypes: Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OXCT1 Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10964512, 23281106, 1405472, 9671268; Phenotypes: SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTX2 Achchuthan Shanmugasundram reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15846561, 26974134, 28388256, 27299576, 20396904, 18628516, 19956411, 19965921, 18854396; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 5, OMIM:610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 OTULIN Achchuthan Shanmugasundram reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523608, 27686184, 27559085; Phenotypes: Otulin-related auto inflammatory syndrome, OMIM:617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTUD7A Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: ; Publications: 29395074; Phenotypes: 15q13.3 deletions phenocopy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 OTUD6B Achchuthan Shanmugasundram reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28343629; Phenotypes: Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTUD5 Achchuthan Shanmugasundram reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33748114, 33131077, 33523931; Phenotypes: OTUD5-associated neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 OTOGL Achchuthan Shanmugasundram reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122586; Phenotypes: MODERATE SENSORINEURAL HEARING LOSS, OMIM:614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTC Achchuthan Shanmugasundram reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 1480464, 7860064, 2347583, 3170748, 2037279, 9056557, 2035531, 11260212, 10405441, 1721894, 1353535, 2843770; Phenotypes: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMIM:311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 OSGEP Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ORC6 Achchuthan Shanmugasundram reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7710253; Phenotypes: MEIER-GORLIN SYNDROME 3, OMIM:613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ORC4 Achchuthan Shanmugasundram reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 2, OMIM:613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ORC1 Achchuthan Shanmugasundram reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358633; Phenotypes: MEIER-GORLIN SYNDROME 1, OMIM:224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OPHN1 Achchuthan Shanmugasundram reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528889, 12805098, 12807966, 9582072, 16158428; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ONECUT1 Achchuthan Shanmugasundram reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34663987; Phenotypes: ONECUT1-associated neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OGT Achchuthan Shanmugasundram reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OGT-related developmental disorder (hemizygous), OGT-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 OGDHL Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 34800363; Phenotypes: OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OGDH Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36520152, 32383294; Phenotypes: OGDH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OFD1 Achchuthan Shanmugasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11950863, 15221448, 19800048, 9482645, 22353940, 16783569, 11179005, 9198060; Phenotypes: ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, OMIM:311200, JOUBERT SYNDROME TYPE 10, OMIM:300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ODC1 Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ODC1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 OCRL Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15627218, 9632163, 9199559; Phenotypes: DENT DISEASE TYPE 2, OMIM:300555, LOWE OCULOCEREBRORENAL SYNDROME, OMIM:309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 OCLN Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 32240828, 26689621, 20727516, 28179633; Phenotypes: OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OBSL1 Achchuthan Shanmugasundram reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481195; Phenotypes: 3-M SYNDROME 2, OMIM:612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NYX Achchuthan Shanmugasundram reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062471, 11062472, 16670814; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A, OMIM:310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NUS1 Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NUP62 Achchuthan Shanmugasundram reviewed gene: NUP62: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16786527; Phenotypes: INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP54 Achchuthan Shanmugasundram reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333996; Phenotypes: NUP54-related early-onset dystonia with striatal lesions; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP214 Achchuthan Shanmugasundram reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128; Phenotypes: Acute Febrile Encephalopathy, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP133 Achchuthan Shanmugasundram reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 30427554; Phenotypes: GALLOWAY-MOWAT SYNDROME 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP107 Achchuthan Shanmugasundram reviewed gene: NUP107: Rating: RED; Mode of pathogenicity: ; Publications: 28280135, 26411495; Phenotypes: GALLOWAY-MOWAT SYNDROME 7, OMIM:618348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUDT2 Achchuthan Shanmugasundram reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30059600, 27431290, 33058507; Phenotypes: NUDT2-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUBPL Achchuthan Shanmugasundram reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NTRK2 Achchuthan Shanmugasundram reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NTRK1 Achchuthan Shanmugasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233776, 19250380, 10330344, 8145823, 10982191, 8696348, 10090906, 10861667; Phenotypes: CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS, OMIM:256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NTNG2 Achchuthan Shanmugasundram reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31372774, 31668703; Phenotypes: Developmental delay, hypotonia, and autistic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NT5C3A Achchuthan Shanmugasundram reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY, OMIM:266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSUN2 Achchuthan Shanmugasundram reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22541559, 22577224, 21063731, 22541562; Phenotypes: AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5, OMIM:611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSRP1 Achchuthan Shanmugasundram reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: NSRP1-associated developmental delay, epilepsy and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSMCE3 Achchuthan Shanmugasundram reviewed gene: NSMCE3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DISTINCT DNA BREAKAGE SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSDHL Achchuthan Shanmugasundram reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476, 11907515, 19842190, 10710235; Phenotypes: CK SYNDROME, OMIM:300831, CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS, OMIM:308050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 NSD2 Achchuthan Shanmugasundram reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NSD2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NSD1 Achchuthan Shanmugasundram reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222665, 12525543, 11896389; Phenotypes: SOTOS SYNDROME, OMIM:117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NRXN3 Achchuthan Shanmugasundram reviewed gene: NRXN3: Rating: RED; Mode of pathogenicity: ; Publications: 22209245; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NRXN2 Achchuthan Shanmugasundram reviewed gene: NRXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NRXN1 Achchuthan Shanmugasundram reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22405623, 30031152, 30873608, 28289584, 27195815, 23495017; Phenotypes: PITT HOPKINS 2, AUTISM, OMIM:209850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 NRROS Achchuthan Shanmugasundram reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197075; Phenotypes: NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NRCAM Achchuthan Shanmugasundram reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35108495; Phenotypes: NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NRAS Achchuthan Shanmugasundram reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19966803; Phenotypes: NOONAN SYNDROME TYPE 6, OMIM:613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR4A2 Achchuthan Shanmugasundram reviewed gene: NR4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NR4A2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR2F2 Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24702954; Phenotypes: CONGENITAL HEART DEFECTS and XX sex reversal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR2F1 Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462372, 26986877; Phenotypes: BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME, OMIM:615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR1I3 Achchuthan Shanmugasundram reviewed gene: NR1I3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NPR3 Achchuthan Shanmugasundram reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032985; Phenotypes: Enhanced Growth and Connective Tissue Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPR2 Achchuthan Shanmugasundram reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15146390; Phenotypes: ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE, OMIM:602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPM1 Achchuthan Shanmugasundram reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31570891; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NPHS2 Achchuthan Shanmugasundram reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589695, 8606597, 12464671, 10742096; Phenotypes: NEPHROTIC SYNDROME, TYPE 2, OMIM:600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHS1 Achchuthan Shanmugasundram reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9660941, 10652016, 10577936, 17290294, 11854170; Phenotypes: NEPHROTIC SYNDROME TYPE 1, OMIM:256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHP4 Achchuthan Shanmugasundram reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12244321; Phenotypes: NEPHRONOPHTHISIS TYPE 4, OMIM:606966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHP3 Achchuthan Shanmugasundram reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19303681, 12872122; Phenotypes: NEPHRONOPHTHISIS TYPE 3, OMIM:604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHP1 Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326933, 9382140, 8852662, 10839884; Phenotypes: NEPHRONOPHTHISIS TYPE 1, OMIM:256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPC2 Achchuthan Shanmugasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447927, 17470133, 11125141, 11567215; Phenotypes: NIEMANN-PICK DISEASE, TYPE C2, OMIM:607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPC1 Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11333381, 9211849, 12554680, 10521297, 10480349, 11479732, 11349231, 9245994; Phenotypes: NIEMANN-PICK DISEASE, TYPE C1, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NOVA2 Achchuthan Shanmugasundram reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Intellectual disability with ataxia/spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOTCH3 Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: Other; Publications: 23731542; Phenotypes: INFANTILE MYOFIBROMATOSIS, OMIM:615293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOTCH2 Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378985, 21378989, 21712856; Phenotypes: HAJDU-CHENEY SYNDROME, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOTCH1 Achchuthan Shanmugasundram reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 16025100; Phenotypes: LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION, OMIM:109730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOP10 Achchuthan Shanmugasundram reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: Other; Publications: 17507419; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NONO Achchuthan Shanmugasundram reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 36426740, 26571461, 27329731; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NOG Achchuthan Shanmugasundram reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: ; Publications: 12089654, 15770128, 17668388, 11846737, 10069712, 11545688, 20503332; Phenotypes: NOG-related-symphalangism spectrum disorder , OMIM:186500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NODAL Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NMNAT1 Achchuthan Shanmugasundram reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22842229, 24830548, 26464178, 22842227, 26316326, 24940029, 12734549, 22842230; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NLGN4X Achchuthan Shanmugasundram reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NLGN3 Achchuthan Shanmugasundram reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12669065; Phenotypes: AUTISM SPECTRUM DISORDERS, OMIM:198890; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NKX6-2 Achchuthan Shanmugasundram reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28575651; Phenotypes: Progressive Spastic Ataxia and Hypomyelination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NKX3-2 Achchuthan Shanmugasundram reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OMIM:613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NKX2-5 Achchuthan Shanmugasundram reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19948535, 16418214, 11714651, 20807224; Phenotypes: ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, OMIM:108900, TETRALOGY OF FALLOT, OMIM:187500, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5, OMIM:225250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NKX2-1 Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15289765; Phenotypes: CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, OMIM:610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NKAP Achchuthan Shanmugasundram reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587868; Phenotypes: Marfanoid Habitus and Cognitive Impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NIPBL Achchuthan Shanmugasundram reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15318302, 15146185, 11391654, 15146186, 16799922, 35446447; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 1, OMIM:122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NHS Achchuthan Shanmugasundram reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15623749, 14564667, 458526, 2246772, 19414485, 11836358; Phenotypes: NANCE-HORAN SYNDROME, OMIM:302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NHP2 Achchuthan Shanmugasundram reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18523010; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NHLRC2 Achchuthan Shanmugasundram reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34165204, 32435055, 29423877; Phenotypes: NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NGLY1 Achchuthan Shanmugasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24651605; Phenotypes: CONGENITAL DISORDER OF DEGLYCOSYLATION, OMIM:615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NFU1 Achchuthan Shanmugasundram reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11156534, 22077971; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NFIX Achchuthan Shanmugasundram reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: 22301465, 20673863, 29897170; Phenotypes: MARSHALL-SMITH SYNDROME, OMIM:602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NFIB Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402; Phenotypes: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NFIA Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17530927; Phenotypes: Macrocephaly with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NFE2L2 Achchuthan Shanmugasundram reviewed gene: NFE2L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29018201; Phenotypes: NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11258625, 1745350, 9529361, 12483293, 10712197, 1937470, 12438263, 9003501, 1302608, 1783401, 12707950, 15523642, 15520408, 7655472, 9668168, 11704931, 10677298, 30308447, 7633431, 13680360, 8317503, 8664912, 1719426, 1568247, 19449407, 19845691, 15948193; Phenotypes: NEUROFIBROMATOSIS TYPE 1, OMIM:162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NEXMIF Achchuthan Shanmugasundram reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 33144681, 23615299, 26576034, 15466006, 27568816, 27358180; Phenotypes: NEXMIF-related Intellectual disability and epilepsy (XLR), OMIM:300912, NEXMIF-related Intellectual disability and epilepsy (XLD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 NEU1 Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11829139, 11702224, 10944856, 14695530, 10767332, 8985184, 11470272, 9054950; Phenotypes: SIALIDOSIS, OMIM:256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEK8 Achchuthan Shanmugasundram reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199800, 23418306; Phenotypes: NEPHRONOPHTHISIS 9, OMIM:613824, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, OMIM:615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEK1 Achchuthan Shanmugasundram reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT RIB-POLYDACTYLY SYNDORME, TYPE II, OMIM:263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEDD4L Achchuthan Shanmugasundram reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27694961, 23934111, 28515470; Phenotypes: Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NECTIN4 Achchuthan Shanmugasundram reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20691405, 21346770, 1646587; Phenotypes: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, OMIM:613573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NECTIN1 Achchuthan Shanmugasundram reviewed gene: NECTIN1: Rating: RED; Mode of pathogenicity: ; Publications: 10932188; Phenotypes: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEB Achchuthan Shanmugasundram reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27105866, 10051637, 27933661; Phenotypes: AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY, OMIM:256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFV2 Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFV1 Achchuthan Shanmugasundram reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS8 Achchuthan Shanmugasundram reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS7 Achchuthan Shanmugasundram reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS4 Achchuthan Shanmugasundram reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS1 Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB8 Achchuthan Shanmugasundram reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429571; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: RED; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB3 Achchuthan Shanmugasundram reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22499348, 22277967; Phenotypes: NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB11 Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 NDUFAF8 Achchuthan Shanmugasundram reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: NDUFAF8-related Leigh Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFAF2 Achchuthan Shanmugasundram reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA9 Achchuthan Shanmugasundram reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32385911; Phenotypes: NDUFA8-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA6 Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257; Phenotypes: NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA10 Achchuthan Shanmugasundram reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME DUP, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA1 Achchuthan Shanmugasundram reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NDST1 Achchuthan Shanmugasundram reviewed gene: NDST1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDP Achchuthan Shanmugasundram reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7627181, 1307245, 8790105, 7814011, 24801666, 9382152, 17334993, 8069314, 8268931, 16163268, 17296899, 9143918, 1303264, 8240113, 8990009; Phenotypes: NORRIE DISEASE, OMIM:310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NDNF Achchuthan Shanmugasundram reviewed gene: NDNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883645; Phenotypes: NDNF-related Congenital Hypogonadotrophic Hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NDE1 Achchuthan Shanmugasundram reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21529752, 21529751; Phenotypes: LISSENCEPHALY 4, OMIM:614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCOR1 Achchuthan Shanmugasundram reviewed gene: NCOR1: Rating: RED; Mode of pathogenicity: ; Publications: 30289594, 27824329; Phenotypes: NCOR1-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NCKAP1 Achchuthan Shanmugasundram reviewed gene: NCKAP1: Rating: RED; Mode of pathogenicity: ; Publications: 33157009; Phenotypes: NCKAP1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NCDN Achchuthan Shanmugasundram reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33711248; Phenotypes: NCDN-associated neurodevelopmental disorder with seizures (monoallelic), NCDN-associated neurodevelopmental disorder with seizures (biallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NCAPH Achchuthan Shanmugasundram reviewed gene: NCAPH: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCAPG2 Achchuthan Shanmugasundram reviewed gene: NCAPG2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609410; Phenotypes: Severe Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCAPD3 Achchuthan Shanmugasundram reviewed gene: NCAPD3: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCAPD2 Achchuthan Shanmugasundram reviewed gene: NCAPD2: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NBN Achchuthan Shanmugasundram reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590180, 3802554; Phenotypes: NIJMEGEN BREAKAGE SYNDROME, OMIM:251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal