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DDG2P v4.3 CASP2 Arina Puzriakova Phenotypes for gene: CASP2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
DDG2P v3.88 PCNT Arina Puzriakova Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
DDG2P v3.86 ASCC3 Arina Puzriakova Phenotypes for gene: ASCC3 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
DDG2P v3.82 CAPRIN1 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636)
DDG2P v3.82 CAPRIN1 Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
DDG2P v3.81 CAPRIN1 Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
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 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 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 NARS Achchuthan Shanmugasundram commented on gene: NARS: Added new-gene-name tag, new approved HGNC gene symbol for NARS is NARS1.
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).
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 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.
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 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 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 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 v3.64 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 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 v3.62 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 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 v3.60 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 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 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 v3.58 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 v3.56 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 v3.55 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 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 v3.53 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 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; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, OMIM:615547
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 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 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 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 v3.47 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 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 v3.45 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 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 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 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 v3.40 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 v3.36 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 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 v3.31 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 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 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 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 v3.27 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 v3.24 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 v3.22 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 v3.21 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.
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 v3.19 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 v3.16 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 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 v3.13 WARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: WARS.
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 v3.12 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 NAXE Achchuthan Shanmugasundram reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616477; Phenotypes: Lethal Neurometabolic Disorder of Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NARS2 Achchuthan Shanmugasundram reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32020600, 25807530, 28716262, 28077841, 25385316, 30327238, 35703918, 34415467, 25629079; Phenotypes: NARS2-associated oxidative phosphorylation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NARS Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: NARS1 Neurodevelopmental Disorder (monoallelic), NARS1 Neurodevelopmental Disorder (biallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 NALCN Achchuthan Shanmugasundram reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683120, 24075186, 23749988; Phenotypes: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 NAGLU Achchuthan Shanmugasundram reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: 11068184, 21937992, 12202988, 10094189, 8650226, 9832037; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3B, OMIM:252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NACC1 Achchuthan Shanmugasundram reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132692; Phenotypes: Infantile Epilepsy, Cataracts, and Profound Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NAA15 Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23665959, 29656860, 28191889; Phenotypes: CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYT1 Achchuthan Shanmugasundram reviewed gene: MYT1: Rating: RED; Mode of pathogenicity: ; Publications: 27358179; Phenotypes: OAVS/Goldenhar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYSM1 Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: RED; Mode of pathogenicity: ; Publications: 26220525, 32640305, 28115216, 33618624, 24288411; Phenotypes: MYSM1-related congenital bone marrow failure, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYRF Achchuthan Shanmugasundram reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31069960, 29446546, 30532227, 30070761; Phenotypes: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYOC Achchuthan Shanmugasundram reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYLPF Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYH9 Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10973259, 25077172; Phenotypes: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYH8 Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYH3 Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29805041, 18695058, 16642020; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MYBPC1 Achchuthan Shanmugasundram reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31264822, 31966463, 22610851, 26661508, 25679999, 20045868; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MTO1 Achchuthan Shanmugasundram reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608499; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS, OMIM:614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MTM1 Achchuthan Shanmugasundram reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9285787, 8640223, 12707446, 7611280, 9450905, 12859411, 11552027, 10790201; Phenotypes: MYOTUBULAR MYOPATHY, X-LINKED, OMIM:310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MSX2 Achchuthan Shanmugasundram reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14571277; Phenotypes: ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, OMIM:168550, CRANIOSYNOSTOSIS, TYPE 2, OMIM:604757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MRPS2 Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MNX1 Achchuthan Shanmugasundram reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216552, 16906559, 10631160, 7550324, 9843207; Phenotypes: CURRARINO SYNDROME, OMIM:176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MLYCD Achchuthan Shanmugasundram reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MALONYL-COA DECARBOXYLASE DEFICIENCY, OMIM:248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MKS1 Achchuthan Shanmugasundram reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17377820, 16415886; Phenotypes: BARDET-BIEDL SYNDROME TYPE 13, OMIM:615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MITF Achchuthan Shanmugasundram reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8490648, 9158138, 10851256, 7874167, 9856573, 8589691, 27889061; Phenotypes: TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MIR184 Achchuthan Shanmugasundram reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: Other; Publications: 24138095, 23833072, 27195078, 25373792, 21996275; Phenotypes: EDICT SYNDROME, OMIM:614303, KERATOCONUS WITH CATARACT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MFSD2A Achchuthan Shanmugasundram reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26005865; Phenotypes: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MEGF8 Achchuthan Shanmugasundram reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARPENTER SYNDROME, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MEGF10 Achchuthan Shanmugasundram reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236770, 22101682, 22371254; Phenotypes: MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, OMIM:614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MECOM Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MDH2 Achchuthan Shanmugasundram reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Early-Onset Severe Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCPH1 Achchuthan Shanmugasundram reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20978018, 7693575, 16311745, 12046007, 11857108; Phenotypes: MICROCEPHALY PRIMARY TYPE 1, OMIM:251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCCC2 Achchuthan Shanmugasundram reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OMIM:210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCCC1 Achchuthan Shanmugasundram reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY, OMIM:210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAPK8IP3 Achchuthan Shanmugasundram reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612693; Phenotypes: Intellectual Disability with Variable Brain Anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAP2K2 Achchuthan Shanmugasundram reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAP2K1 Achchuthan Shanmugasundram reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAGI2 Achchuthan Shanmugasundram reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: 18565486; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAFB Achchuthan Shanmugasundram reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27181683, 22387013; Phenotypes: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300, Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAF Achchuthan Shanmugasundram reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11772997, 24664492, 16470690; Phenotypes: CATARACT 21, MULTIPLE TYPES, OMIM:610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LRRC6 Achchuthan Shanmugasundram reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122589; Phenotypes: PRIMARY CILIARY DYSKINESIA, OMIM:614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRRC56 Achchuthan Shanmugasundram reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388400; Phenotypes: Mucociliary Clearance and Laterality Defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRP2 Achchuthan Shanmugasundram reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 29388841, 23992033, 23033978, 19577669; Phenotypes: DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRIT3 Achchuthan Shanmugasundram reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23246293; Phenotypes: AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS, OMIM:615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LMNB2 Achchuthan Shanmugasundram reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33033404; Phenotypes: LMNB2-related Primary Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LMNA Achchuthan Shanmugasundram reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655060, 10587585; Phenotypes: 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LIPT1 Achchuthan Shanmugasundram reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27247813, 24341803, 24256811; Phenotypes: Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIPN Achchuthan Shanmugasundram reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: ICHTHYOSIS, LAMELLAR, 4, OMIM:613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LHX4 Achchuthan Shanmugasundram reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:290135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LHX3 Achchuthan Shanmugasundram reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407919, 10835633, 17327381; Phenotypes: PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3, OMIM:221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LGI4 Achchuthan Shanmugasundram reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318499; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LEMD2 Achchuthan Shanmugasundram reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905398; Phenotypes: Nuclear Envelopathy with Early Progeroid Appearance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LDB3 Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LARS2 Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541342; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LARP7 Achchuthan Shanmugasundram reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 26374271, 26607181; Phenotypes: ALAZAMI SYNDROME, OMIM:615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LARGE1 Achchuthan Shanmugasundram reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436019, 19299310, 12966029, 21248746, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6, OMIM:608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMB1 Achchuthan Shanmugasundram reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES, OMIM:615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMA2 Achchuthan Shanmugasundram reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12601554, 11591858, 18700894, 9158149, 7550355, 11071490, 16216942, 12552556; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMA1 Achchuthan Shanmugasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 25105227; Phenotypes: CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, OMIM:615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 L2HGDH Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15385440, 19911013; Phenotypes: L-2-HYDROXYGLUTARIC ACIDURIA, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KRAS Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16773572, 16474405, 19396835; Phenotypes: NOONAN SYNDROME TYPE 3, OMIM:609942, CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KMT2B Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KLHL7 Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KITLG Achchuthan Shanmugasundram reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: Other; Publications: 26522471; Phenotypes: WAARDENBURG SYNDROME TYPE 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF1A Achchuthan Shanmugasundram reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25253658, 25265257, 26125038, 26486474, 21820098, 30385166, 21376300, 32096284, 26354034; Phenotypes: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OMIM:614213, NESCAV SYNDROME, OMIM:614255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KIDINS220 Achchuthan Shanmugasundram reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 27005418, 28934391, 32909676; Phenotypes: KIDINS220-related Developmental Disorder, biallelic, Spastic paraplegia, intellectual disability, nystagmus, and obesity., OMIM:617296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KDM5C Achchuthan Shanmugasundram reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203167, 15586325, 19826449, 18697827, 21575681, 16538222; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED JARID1C-RELATED, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 KCTD1 Achchuthan Shanmugasundram reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541344; Phenotypes: SCALP-EAR-NIPPLE SYNDROME, OMIM:181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNT1 Achchuthan Shanmugasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23086397, 23086396; Phenotypes: MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNQ2 Achchuthan Shanmugasundram reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25880994, 28832002, 27602407, 15249611, 28687180, 22926866, 25566516, 17872363, 27861786, 28728838, 25092550, 9430594, 23774309, 30107960, 11175290, 24107868, 11572947, 28631195, 31199083, 10323247, 23692823, 23621294, 31152295, 29687029, 31951342, 9425895, 16235065, 24371303, 22169383, 31418850, 30530441, 22275249, 12742592; Phenotypes: BENIGN NEONATAL EPILEPSY TYPE 1, OMIM:121200, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7, OMIM:613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNMA1 Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KCNK9 Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: BIRK-BAREL SYNDROME, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v3.12 KCNH1 Achchuthan Shanmugasundram reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25420144; Phenotypes: TEMPLE BARRAISTER SYNDROME, OMIM:611816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNC3 Achchuthan Shanmugasundram reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNB1 Achchuthan Shanmugasundram reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25164438; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNA4 Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KAT6B Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24458743, 29226580, 31871732, 30353918, 26370006, 28426343, 26334766, 28758091, 25424711, 23436491, 30569622, 22265017, 27696664, 30900427, 22077973, 22265014, 28696035, 28232779; Phenotypes: GENITOPATELLAR SYNDROME, OMIM:606170, SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KARS Achchuthan Shanmugasundram reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920668, 23768514; Phenotypes: DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916, KARS1-related leukoencephalopathy with or without deafness, OMIM:619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 JARID2 Achchuthan Shanmugasundram reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33077894, 35533077; Phenotypes: JARID2-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 JAM3 Achchuthan Shanmugasundram reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 JAG2 Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33861953; Phenotypes: JAG2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ITPR1 Achchuthan Shanmugasundram reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27062503, 22986007, 27108798, 27108797; Phenotypes: Gillespie Syndrome, OMIM:206700, Gillespie Syndrome, monoallelic, OMIM:206700, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ITGA7 Achchuthan Shanmugasundram reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ISPD Achchuthan Shanmugasundram reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 7604843, 22522421, 9492098, 23217329; Phenotypes: WALKER WARBURG SYNDROME, OMIM:614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 INPP5K Achchuthan Shanmugasundram reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28190459, 28190456, 28940338; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IGSF1 Achchuthan Shanmugasundram reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT, OMIM:300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IGHMBP2 Achchuthan Shanmugasundram reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15290238, 11528396; Phenotypes: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, OMIM:604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IGFBP7 Achchuthan Shanmugasundram reviewed gene: IGFBP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12441727; Phenotypes: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, OMIM:614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IGBP1 Achchuthan Shanmugasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: Other; Publications: 23871722; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IFIH1 Achchuthan Shanmugasundram reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24995871, 25620204; Phenotypes: AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 IDUA Achchuthan Shanmugasundram reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8328452, 7951228, 10466419, 4221470, 10735634, 6821579, 7550232, 9391892, 8664897; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 1S, OMIM:607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IDS Achchuthan Shanmugasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1284597, 1303211, 1550586, 7581397, 8364592, 1355630, 8940265, 12794697, 1639384; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 2, OMIM:309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IARS2 Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: RED; Mode of pathogenicity: ; Publications: 25130867, 28328135; Phenotypes: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IARS Achchuthan Shanmugasundram reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27426735; Phenotypes: Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYDIN Achchuthan Shanmugasundram reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022101, 14985390; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 5, OMIM:608647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYAL2 Achchuthan Shanmugasundram reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28081210, 34906488; Phenotypes: HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYAL1 Achchuthan Shanmugasundram reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8793927; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 9, OMIM:601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HTRA2 Achchuthan Shanmugasundram reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 27696117; Phenotypes: Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HSF4 Achchuthan Shanmugasundram reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16876512, 12089525, 29243736, 24637349; Phenotypes: CATARACT 5, MULTIPLE TYPES, OMIM:116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HR Achchuthan Shanmugasundram reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: ; Publications: 19897589, 17680008, 9856480, 9758627, 9445480, 10051399, 10777357, 10205263, 10469319, 12271294, 9463324; Phenotypes: ATRICHIA WITH PAPULAR LESIONS, OMIM:209500, ALOPECIA UNIVERSALIS, OMIM:146550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HPGD Achchuthan Shanmugasundram reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CRANIOOSTEOARTHROPATHY, OMIM:259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HOXB1 Achchuthan Shanmugasundram reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22770981; Phenotypes: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HOXA11 Achchuthan Shanmugasundram reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNRNPA2B1 Achchuthan Shanmugasundram reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35484142; Phenotypes: Early-onset oculopharyngeal muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HMX1 Achchuthan Shanmugasundram reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 25574057, 29140751; Phenotypes: OCULOAURICULAR SYNDROME, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HMGCS2 Achchuthan Shanmugasundram reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9337379, 12647205, 11228257, 9727719, 11479731; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HMGCL Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11129331, 9463337, 8617516; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, OMIM:246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HLCS Achchuthan Shanmugasundram reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, OMIM:253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HGSNAT Achchuthan Shanmugasundram reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18518886, 16960811, 20825431, 17033958, 18024218; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3C, OMIM:252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HESX1 Achchuthan Shanmugasundram reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:319358, SEPTOOPTIC DYSPLASIA, OMIM:182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 HERC1 Achchuthan Shanmugasundram reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28323226, 27108999, 26153217, 26138117; Phenotypes: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HCN1 Achchuthan Shanmugasundram reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24747641; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HARS Achchuthan Shanmugasundram reviewed gene: HARS: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: USHER SYNDROME, OMIM:614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GUSB Achchuthan Shanmugasundram reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7633414, 6811712, 12522561, 9490302, 1702266, 7573038, 1833732, 4265197; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 7, OMIM:253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GUCY2C Achchuthan Shanmugasundram reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 22436048; Phenotypes: FAMILIAL DIARRHEA DIARRHEA 6, OMIM:614616, MECONIUM ILEUS, OMIM:614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GTPBP3 Achchuthan Shanmugasundram reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GRM6 Achchuthan Shanmugasundram reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16249515, 15781871, 17405131; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, OMIM:257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GRM1 Achchuthan Shanmugasundram reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901947; Phenotypes: CONGENITAL CEREBELLAR ATAXIA, OMIM:614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GRID2 Achchuthan Shanmugasundram reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31183084, 25841024, 24078737, 23611888, 28856174; Phenotypes: GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GPAA1 Achchuthan Shanmugasundram reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100095; Phenotypes: Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia, OMIM:617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GOT2 Achchuthan Shanmugasundram reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422819; Phenotypes: Malate-Aspartate Shuttle-Related Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNS Achchuthan Shanmugasundram reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19650410, 12624138, 17998446, 6450420, 3100754; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3D, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNB5 Achchuthan Shanmugasundram reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523599; Phenotypes: Sinus Bradycardia and Cognitive Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNB3 Achchuthan Shanmugasundram reviewed gene: GNB3: Rating: RED; Mode of pathogenicity: ; Publications: 27063057; Phenotypes: GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNAS Achchuthan Shanmugasundram reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1944469, 18182455, 1505964, 11095461, 10487696, 17299070, 2122458, 15592469, 9328353, 8702665, 11029463, 11073544, 15126527, 8072545, 1594625; Phenotypes: ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNAI3 Achchuthan Shanmugasundram reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11102934; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNA14 Achchuthan Shanmugasundram reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476652; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GMPPB Achchuthan Shanmugasundram reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GMPPA Achchuthan Shanmugasundram reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24035193, 35665995; Phenotypes: GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GMNN Achchuthan Shanmugasundram reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637980; Phenotypes: Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GLE1 Achchuthan Shanmugasundram reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18204449; Phenotypes: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLDN Achchuthan Shanmugasundram reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616481; Phenotypes: Lethal arthroogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GJC2 Achchuthan Shanmugasundram reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20537300, 8733901, 18094336, 16969684, 15192806, 19056803; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GJB3 Achchuthan Shanmugasundram reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GJA8 Achchuthan Shanmugasundram reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16604058, 18006672, 14627691, 9497259, 10480374, 11846744; Phenotypes: CATARACT-MICROCORNEA SYNDROME, OMIM:116150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GJA3 Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GJA1 Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108203, 2157843, 16816024, 14974090, 4209752, 2309863, 12457340, 15551259, 7815444, 21670345, 16709485, 17256797, 14981729, 11470490; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GHR Achchuthan Shanmugasundram reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11468686, 15001620, 8626815, 12679461, 15536163, 2779634, 9661642, 8488849, 2813379, 17405847, 9851797, 9360529, 9467570, 2233903; Phenotypes: PITUITARY DWARFISM II, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GFER Achchuthan Shanmugasundram reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: 19409522; Phenotypes: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GEMIN5 Achchuthan Shanmugasundram reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33963192; Phenotypes: GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30237576, 35861185, 27878435, 25558065; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GDF1 Achchuthan Shanmugasundram reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144877, 17924340, 20413652, 28991257, 33131162; Phenotypes: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6, OMIM:613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GCDH Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11174631, 8900228, 10699052, 7795610, 8900227; Phenotypes: GLUTARICACIDEMIA TYPE 1, OMIM:231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GBA2 Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332917; Phenotypes: AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GATM Achchuthan Shanmugasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10762163; Phenotypes: ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY, OMIM:612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GATA6 Achchuthan Shanmugasundram reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631719, 20581743, 8071961, 22158542; Phenotypes: PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, OMIM:600001, ATRIOVENTRICULAR SEPTAL DEFECT 5, OMIM:614474, ATRIAL SEPTAL DEFECT 9, OMIM:614475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GATA3 Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25510779, 15830275, 30396722, 29026277, 26268891, 23291697, 26316437, 21834031, 27387476, 19723756, 23203342, 29593425, 29073906, 29025137, 25771973, 21242646, 21157112, 21120445, 11389161, 23186964, 23052618, 16509533, 25124981, 31885872, 19952462, 26777049, 19248180, 24434941, 15705923, 26514990, 26800885, 28566604, 19253381, 30534854, 10935639, 21399899, 28303854, 17309062; Phenotypes: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GAS8 Achchuthan Shanmugasundram reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387594; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GAS2L2 Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30665704; Phenotypes: Impaired Cilia Orientation and Mucociliary Clearance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GALNS Achchuthan Shanmugasundram reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 4A, OMIM:253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FYCO1 Achchuthan Shanmugasundram reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21636066, 11519376; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, OMIM:610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FTO Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FTL Achchuthan Shanmugasundram reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11849230, 9414313, 9414300, 19176363, 7493028, 9226182, 7669675, 12200611, 9292547, 10759702; Phenotypes: HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, OMIM:600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXL2 Achchuthan Shanmugasundram reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12400065, 12938087, 11175783, 17089161, 12630957, 11468277, 11776388, 12567411, 12529855, 21325395; Phenotypes: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME, OMIM:110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXG1 Achchuthan Shanmugasundram reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18571142, 21441262, 19564653, 19578037; Phenotypes: CONGENITAL VARIANT OF RETT SYNDROME, OMIM:613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXF1 Achchuthan Shanmugasundram reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXE3 Achchuthan Shanmugasundram reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29136273, 20361012, 20140963, 6801987, 22204637, 3550563, 11159941, 16826526; Phenotypes: CONGENITAL PRIMARY APHAKIA, OMIM:610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 FOXE1 Achchuthan Shanmugasundram reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BAMFORTH-LAZARUS SYNDROME, OMIM:241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FMR1 Achchuthan Shanmugasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM:300624; 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 FLT4 Achchuthan Shanmugasundram reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33067626, 10835628, 12960217, 16924388, 19289394, 16965327, 10856194; Phenotypes: CONGENITAL HEART DISEASE, MILROY DISEASE, OMIM:153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FLNB Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 FLNA Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, 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 FLG Achchuthan Shanmugasundram reviewed gene: FLG: Rating: RED; Mode of pathogenicity: ; Publications: 17291859, 16444271; Phenotypes: ICHTHYOSIS VULGARIS, OMIM:146700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKTN Achchuthan Shanmugasundram reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17044012, 17878207, 19179078, 12601708, 9690476, 17036286, 10545611, 19342235, 14627679; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4, OMIM:611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKRP Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053680, 12654965, 15121789, 11592034, 14523375, 17336067, 11741828, 14647208, 14652796, 11071142, 12707439; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5, OMIM:613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKBP14 Achchuthan Shanmugasundram reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OMIM:614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FIG4 Achchuthan Shanmugasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665, 23623387, 7496176, 34899148, 30740813, 2319578; Phenotypes: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME, OMIM:216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FHL1 Achchuthan Shanmugasundram reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607917, 19716112, 19687455, 18179888; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, OMIM:300696; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FH Achchuthan Shanmugasundram reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8200987, 22069215; Phenotypes: FUMARASE DEFICIENCY, OMIM:606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FGFR3 Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28483234, 8845844, 7493034, 7913883, 17033969, 16912704, 16501574, 7758520, 11055896, 19449430, 9452043, 7670477, 7773297, 10215410, 7647778, 16411219, 8078586, 8589686, 27139183; Phenotypes: THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, MUENKE SYNDROME, OMIM:602849, HYPOCHONDROPLASIA, OMIM:146000, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, ACHONDROPLASIA, OMIM:100800, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGFR2 Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7719344, 9677057, 7987400, 7874170, 9973282, 8696350, 19610084, 15523492, 22038757, 7607643, 8528214, 7581378, 7655462, 17621648, 9002682, 9152842; Phenotypes: APERT SYNDROME, OMIM:101200, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, JACKSON-WEISS SYNDROME, OMIM:123150, ANTLEY-BIXLER SYNDROME, OMIM:207410, CROUZON SYNDROME, OMIM:123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGFR1 Achchuthan Shanmugasundram reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11807866, 15523615, 10394936, 7874169, 15625620, 26942290, 10690855, 7719345, 17235395, 8434615, 7422392, 16606836, 8841188, 23643382, 16882753, 17360555, 18596921, 23812909, 9150725, 16418210, 9002682, 12627230, 10945669, 9586546; Phenotypes: 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGD1 Achchuthan Shanmugasundram reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11093277, 14560308, 16688726, 20082460, 16353258, 7954831, 17152066, 17847065, 10930571, 15809997, 11940089; Phenotypes: AARSKOG-SCOTT SYNDROME, OMIM:305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FBXO11 Achchuthan Shanmugasundram reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27620904, 30057029, 30679813; Phenotypes: Variable Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBN2 Achchuthan Shanmugasundram reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9737771, 11281275, 20799338, 9106527, 9199560, 8900230, 10797416; Phenotypes: CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBN1 Achchuthan Shanmugasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1852208, 1631074, 31950671, 17366579, 9241263, 7611299, 1569206, 1301946, 9101298, 11175294, 9837823, 15032979, 17492313, 7762551, 23103230, 23897642, 21594992, 8136837, 7633409, 15287423, 12525539, 8504310, 20979188, 10766875, 16333834, 8281141, 23023332, 11702223, 17568394, 20082464, 27582083, 8101042, 8071963, 7911051, 8040326, 21594993, 10441597, 18412115, 8428751, 8406497, 8430317; Phenotypes: WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 FBLN1 Achchuthan Shanmugasundram reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FARS2 Achchuthan Shanmugasundram reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29326872, 27549011, 29126765, 28043061, 27095821; Phenotypes: Neurometabolic disorder due to FARS2 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAR1 Achchuthan Shanmugasundram reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25439727; Phenotypes: SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM58A Achchuthan Shanmugasundram reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18297069, 28322501, 8818947; Phenotypes: STAR SYNDROME, OMIM:300707; 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 EXT1 Achchuthan Shanmugasundram reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317, 7550340, 8981950, 15253765; Phenotypes: HEREDITARY MULTIPLE EXOSTOSES TYPE 1, OMIM:133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EXOSC9 Achchuthan Shanmugasundram reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727687; Phenotypes: Cerebellar Atrophy with Spinal Motor Neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXOSC3 Achchuthan Shanmugasundram reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXOSC2 Achchuthan Shanmugasundram reviewed gene: EXOSC2: Rating: RED; Mode of pathogenicity: ; Publications: 36069504, 26843489; Phenotypes: EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETFDH Achchuthan Shanmugasundram reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2C, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETFB Achchuthan Shanmugasundram reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2B, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETFA Achchuthan Shanmugasundram reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732, 7912128, 12815589, 1882842, 1430199, 19249206; Phenotypes: GLUTARIC ACIDURIA TYPE 2A, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERMARD Achchuthan Shanmugasundram reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: ; Publications: 24056535; Phenotypes: PERIVENTRICULAR HETEROTOPIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ERF Achchuthan Shanmugasundram reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354439, 35852485, 27738187; Phenotypes: COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ERCC6L2 Achchuthan Shanmugasundram reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24507776; Phenotypes: BONE MARROW FAILURE SYNDROME 2, OMIM:615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPHB4 Achchuthan Shanmugasundram reviewed gene: EPHB4: Rating: RED; Mode of pathogenicity: ; Publications: 28687708, 29444212; Phenotypes: Capillary malformation-arteriovenous malformation 2, OMIM:618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EPG5 Achchuthan Shanmugasundram reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957, 3344762; Phenotypes: IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM, OMIM:242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPCAM Achchuthan Shanmugasundram reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21315192, 24048167, 24142340, 18572020, 20034091, 26684320, 27875355, 19820410; Phenotypes: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ENPP1 Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137773, 12881724, 15940697, 20137772, 11159191, 19206175, 22209248, 15605415; Phenotypes: Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets, OMIM:208000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EMC1 Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic, Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELMO2 Achchuthan Shanmugasundram reviewed gene: ELMO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476657; Phenotypes: Intraosseous Vascular Malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELAC2 Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849775, 27769300; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EDN1 Achchuthan Shanmugasundram reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268655; Phenotypes: QUESTION MARK EARS, ISOLATED, OMIM:612798, AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 EDAR Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ECEL1 Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DYNC1H1 Achchuthan Shanmugasundram reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28193117, 27066557, 28554554, 27331017, 30122514, 22459677, 25609763, 25484024, 29306600, 24307404, 22368300; Phenotypes: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DSTYK Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23862974, 28157540; Phenotypes: Autosomal Recessive Complicated Spastic Paraparesis SPG23, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 DRC1 Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354437; Phenotypes: PRIMARY CILARY DYSKINESIA, OMIM:244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DPAGT1 Achchuthan Shanmugasundram reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22742743; Phenotypes: DPAGT1-CDG, OMIM:300129, MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, OMIM:614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DOCK7 Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24814191; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNMT3A Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24614070, 29900417, 28475857; Phenotypes: Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), Microcephalic primordial dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DNAJB4 Achchuthan Shanmugasundram reviewed gene: DNAJB4: Rating: RED; Mode of pathogenicity: ; Publications: 36264506; Phenotypes: DNAJB4-related myopathy with early respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAJB13 Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: ; Publications: 27486783; Phenotypes: Primary Ciliary Dyskinesia and Male Infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAH5 Achchuthan Shanmugasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27637300; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 3, OMIM:608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAAF5 Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAAF4 Achchuthan Shanmugasundram reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23872636; Phenotypes: PRIMARY CILIARY DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAAF3 Achchuthan Shanmugasundram reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22387996, 10745040; Phenotypes: PRIMARY CILIARY DYSKINEASIA, OMIM:606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNA2 Achchuthan Shanmugasundram reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DMP1 Achchuthan Shanmugasundram reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033621, 17033625; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AR, OMIM:241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DMD Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: 15643612, 7581396, 10909857, 7881286, 7981590, 17024373, 8361506, 8279470, 1513469, 1757094, 8199594, 8281150, 8301652, 12673664, 8401539, 12754707, 12632325, 8499922, 1301174, 12794683, 8817332, 1549596, 12522557, 1383546, 8401582, 1601417, 8364587, 2071150, 8789442, 1632439, 9683584, 9410897, 8401537, 7951253, 9170407, 1307253; Phenotypes: DUCHENNE MUSCULAR DYSTROPHY, OMIM:310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 DGAT1 Achchuthan Shanmugasundram reviewed gene: DGAT1: Rating: RED; Mode of pathogenicity: ; Publications: 23114594; Phenotypes: CONGENITAL DIARRHEAL DISORDERS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DEPDC5 Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10577924, 23542701, 14510823, 9851433, 15329069, 10825362; Phenotypes: FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI, OMIM:604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DDX11 Achchuthan Shanmugasundram reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137776, 23033317; Phenotypes: WARSAW BREAKAGE SYNDROME, OMIM:613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDHD2 Achchuthan Shanmugasundram reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176823; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDHD1 Achchuthan Shanmugasundram reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821, 15786464; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDC Achchuthan Shanmugasundram reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20505134; Phenotypes: AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY, OMIM:608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DCHS1 Achchuthan Shanmugasundram reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: PERIVENTRICULAR NEURONAL HETEROTOPIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DARS2 Achchuthan Shanmugasundram reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17384640; Phenotypes: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DARS Achchuthan Shanmugasundram reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23643384; Phenotypes: HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DAG1 Achchuthan Shanmugasundram reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21388311; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DACT1 Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: Other; Publications: 22610794, 36066768, 28054444; Phenotypes: Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 D2HGDH Achchuthan Shanmugasundram reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 15609246; Phenotypes: D-2-HYDROXYGLUTARIC ACIDURIA 1, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP2U1 Achchuthan Shanmugasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP24A1 Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 27394135; Phenotypes: Hereditary 1,25-dihydroxyvitamin D-resistant rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP1B1 Achchuthan Shanmugasundram reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9463332, 19643970, 15342693, 19807744, 9497261, 10227395, 9097971, 27777502, 12372064; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYFIP2 Achchuthan Shanmugasundram reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29534297, 31689829, 30664714, 29667327; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CYC1 Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTNND1 Achchuthan Shanmugasundram reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32196547, 29348693, 28301459; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CTDP1 Achchuthan Shanmugasundram reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14517542; Phenotypes: CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CSNK1G1 Achchuthan Shanmugasundram reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: Other; Publications: 24463883; Phenotypes: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYGD Achchuthan Shanmugasundram reviewed gene: CRYGD: Rating: RED; Mode of pathogenicity: ; Publications: 9927684, 17564961, 12011157, 10915766, 10521291; Phenotypes: Cataract 2, multiple types, OMIM:115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYGC Achchuthan Shanmugasundram reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521291, 10914683, 12011157; Phenotypes: Cataract 2, multiple types, OMIM:604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYBB3 Achchuthan Shanmugasundram reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15914629; Phenotypes: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRYBB2 Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8812489, 11424921; Phenotypes: CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CATARACT, COPPOCK-LIKE, OMIM:604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYBB1 Achchuthan Shanmugasundram reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17460281, 12360425; Phenotypes: CATARACT 17, MULTIPLE TYPES, OMIM:611544, CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CRYBA4 Achchuthan Shanmugasundram reviewed gene: CRYBA4: Rating: RED; Mode of pathogenicity: Other; Publications: 16960806, 15452067, 20577656; Phenotypes: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYBA1 Achchuthan Shanmugasundram reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14598164; Phenotypes: CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES, OMIM:600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYAB Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: 11577372, 21337604; Phenotypes: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CRYAA Achchuthan Shanmugasundram reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11006246, 19182255; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, OMIM:604219, CATARACT, NUCLEAR, OMIM:123580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CRADD Achchuthan Shanmugasundram reviewed gene: CRADD: Rating: RED; Mode of pathogenicity: Other; Publications: 27773430, 22279524; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CPS1 Achchuthan Shanmugasundram reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9711878, 19793055, 11474210, 8486760, 17310273; Phenotypes: CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, OMIM:237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COX7B Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; 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 COQ4 Achchuthan Shanmugasundram reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMIM:616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COPB1 Achchuthan Shanmugasundram reviewed gene: COPB1: Rating: RED; Mode of pathogenicity: Other; Publications: 33632302; Phenotypes: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL6A3 Achchuthan Shanmugasundram reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992252; Phenotypes: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OMIM:254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL6A2 Achchuthan Shanmugasundram reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34167565, 15563506, 20106987, 11381124, 16075202, 19564581, 12218063; Phenotypes: COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL2A1 Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14729840, 2339128, 3195588, 8723097, 1429602, 8325895, 15054848, 7849719, 7829510, 26443184, 2543071, 16088915, 8486375, 26626311, 8423604, 15671297, 26358419, 7757081, 7550321, 16752401, 1374906, 17721977, 7981752, 25060605, 7874117, 15316962; Phenotypes: ACHONDROGENESIS TYPE 2, OMIM:200610, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508, KNIEST DYSPLASIA, OMIM:156550, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COL25A1 Achchuthan Shanmugasundram reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, OMIM:616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CNPY3 Achchuthan Shanmugasundram reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLPB Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 25597510, 28687938; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, OMIM:616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLP1 Achchuthan Shanmugasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24766809; Phenotypes: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLDN19 Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLCNKB Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044642, 18310267; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLCNKA Achchuthan Shanmugasundram reviewed gene: CLCNKA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CIT Achchuthan Shanmugasundram reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27453578; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHRNG Achchuthan Shanmugasundram reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826520; Phenotypes: MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT, OMIM:265000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHRNA3 Achchuthan Shanmugasundram reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31708116; Phenotypes: CHRNA3-related congenital anomalies of the kidney and urinary tract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHMP1A Achchuthan Shanmugasundram reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023333; Phenotypes: PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY, OMIM:614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHD7 Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 16400610, 17661815, 18978652, 17334995, 26590800, 17937444, 15300250, 18074359; Phenotypes: CHARGE SYNDROME, OMIM:214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD4 Achchuthan Shanmugasundram reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616479, 27479907; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CFC1 Achchuthan Shanmugasundram reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS, OMIM:319372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CEP57 Achchuthan Shanmugasundram reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 21552266, 12116237; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, OMIM:614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP135 Achchuthan Shanmugasundram reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521416; Phenotypes: PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION, OMIM:614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDKL5 Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; 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 CDK5RAP2 Achchuthan Shanmugasundram reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32015000; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDK13 Achchuthan Shanmugasundram reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 29021403, 29222009, 28807008, 29393965; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDK10 Achchuthan Shanmugasundram reviewed gene: CDK10: Rating: RED; Mode of pathogenicity: ; Publications: 28886341, 29130579; Phenotypes: Severe Growth Retardation, Spine Malformations, and Developmental Delays; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDH2 Achchuthan Shanmugasundram reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31585109, 31650526; Phenotypes: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDH1 Achchuthan Shanmugasundram reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29348693; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDC40 Achchuthan Shanmugasundram reviewed gene: CDC40: Rating: RED; Mode of pathogenicity: Other; Publications: 33220177; Phenotypes: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCNO Achchuthan Shanmugasundram reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24747639; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 29, OMIM:615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC65 Achchuthan Shanmugasundram reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC40 Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC39 Achchuthan Shanmugasundram reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131972; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 14, OMIM:613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC151 Achchuthan Shanmugasundram reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192045; Phenotypes: PRIMARY CILLARY DYSKINEASIA, OMIM:616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC114 Achchuthan Shanmugasundram reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261303, 23261302; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC103 Achchuthan Shanmugasundram reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581229; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CARS2 Achchuthan Shanmugasundram reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361775, 25787132; Phenotypes: Epileptic encephalopathy with complex movement disorder and regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CARS Achchuthan Shanmugasundram reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30824121; Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nails; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CAMTA1 Achchuthan Shanmugasundram reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693284; Phenotypes: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CACNA1D Achchuthan Shanmugasundram reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131953, 23913001; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OMIM:615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OMIM:614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CA8 Achchuthan Shanmugasundram reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19461874; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 3, OMIM:613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CA5A Achchuthan Shanmugasundram reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24530203; Phenotypes: HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OMIM:615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C21orf59 Achchuthan Shanmugasundram reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C1QBP Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C11orf70 Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BUB1B Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21190457, 9916837, 16411201, 11169558, 15475955; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BSND Achchuthan Shanmugasundram reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: 12574213, 11687798, 19646679; Phenotypes: BARTTER SYNDROME TYPE 4A, OMIM:602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BRAF Achchuthan Shanmugasundram reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16372351, 19206169, 16474404, 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BNC2 Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31051115; Phenotypes: Congenital Lower Urinary Tract Obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BMP2 Achchuthan Shanmugasundram reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BIN1 Achchuthan Shanmugasundram reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042, 20142620; Phenotypes: CENTRONUCLEAR MYOPATHY 2, OMIM:255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BICD2 Achchuthan Shanmugasundram reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23664120; Phenotypes: Proximal spinal muscular atrophy with brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BFSP2 Achchuthan Shanmugasundram reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10634598, 10729115; Phenotypes: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BCAS3 Achchuthan Shanmugasundram reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BCAP31 Achchuthan Shanmugasundram reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 28332767, 24011989; Phenotypes: DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 BBS9 Achchuthan Shanmugasundram reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380913, 22353939; Phenotypes: BARDET-BIEDL SYNDROME TYPE 9, OMIM:615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS7 Achchuthan Shanmugasundram reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12567324; Phenotypes: BARDET-BIEDL SYNDROME TYPE 7, OMIM:615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS5 Achchuthan Shanmugasundram reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203199, 15137946; Phenotypes: BARDET-BIEDL SYNDROME TYPE 5, OMIM:615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS4 Achchuthan Shanmugasundram reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11381270, 12016587; Phenotypes: BARDET-BIEDL SYNDROME TYPE 4, OMIM:615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS2 Achchuthan Shanmugasundram reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20618352, 11567139, 16823392, 11285252; Phenotypes: BARDET-BIEDL SYNDROME TYPE 2, OMIM:615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS12 Achchuthan Shanmugasundram reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 19797195, 26082521, 17160889, 20827784; Phenotypes: BARDET-BIEDL SYNDROME TYPE 12, OMIM:615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS10 Achchuthan Shanmugasundram reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 26762677, 20805367, 16582908; Phenotypes: BARDET-BIEDL SYNDROME TYPE 10, OMIM:615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BBS1 Achchuthan Shanmugasundram reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143442, 12524598, 10577922, 10577921, 20177705, 12118255, 12837689; Phenotypes: BARDET-BIEDL SYNDROME TYPE 1, OMIM:209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 B3GAT3 Achchuthan Shanmugasundram reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: Other; Publications: 31438591; Phenotypes: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, OMIM:245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 B3GALNT2 Achchuthan Shanmugasundram reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29791932, 23453667; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11, OMIM:615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ATP8A2 Achchuthan Shanmugasundram reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: Other; Publications: 16075202, 22892528; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ATP7A Achchuthan Shanmugasundram reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8149649, 11431706, 15372525, 19194885, 9246006, 17108763, 20170900, 10739752, 14635105, 9894833, 12221109, 19153371, 7842019, 8812725; Phenotypes: MENKES DISEASE, OMIM:309400, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ATP6V1B1 Achchuthan Shanmugasundram reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12566520, 18798332, 9916796; Phenotypes: DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS, OMIM:267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ATP6V1A Achchuthan Shanmugasundram reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471, 29668857, 32045939; Phenotypes: Autosomal Recessive Cutis Laxa, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ATP13A2 Achchuthan Shanmugasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSON DISEASE 9, OMIM:606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ATL1 Achchuthan Shanmugasundram reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35925862; Phenotypes: ATL1-associated hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ATAD3A Achchuthan Shanmugasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004445, 27640307; Phenotypes: ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ASPM Achchuthan Shanmugasundram reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: ; Publications: 12355089; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ASNS Achchuthan Shanmugasundram reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24139043, 27743885, 32255274, 28776279, 27268761, 31720226, 30978478, 27522229, 25227173, 27469131, 29375865, 29279279, 31123592, 32481472, 25663424, 30057589, 27422383; Phenotypes: Asparagine synthetase deficiency, OMIM:615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ASL Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: 12384776, 12408190, 2263616; Phenotypes: ARGININOSUCCINATE LYASE DEFICIENCY, OMIM:207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ASCC1 Achchuthan Shanmugasundram reviewed gene: ASCC1: Rating: RED; Mode of pathogenicity: ; Publications: 35838082, 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ASAH1 Achchuthan Shanmugasundram reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22703880, 8955159, 11241842, 10610716, 16951918; Phenotypes: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARX Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: 12379852, 21108397, 19606478, 18462864, 19738637, 14722918, 10353782, 12177367, 17668384, 1605226, 11891829, 21204226, 11971879, 11889467; Phenotypes: PARTINGTON SYNDROME, OMIM:309510, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ARX-RELATED, OMIM:300419; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ARSE Achchuthan Shanmugasundram reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070, 12567415, 9409863; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, OMIM:302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ARSB Achchuthan Shanmugasundram reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 1550123, 17643332, 8723688, 1301949, 1718978, 8651289; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 6, OMIM:253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARSA Achchuthan Shanmugasundram reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670590, 7906588, 8104633, 8101038, 9600244, 11941485, 11456299, 7833949, 7909527, 7858169, 1678251, 7815433, 1353340, 1673291, 12788103, 2574462, 11061266, 8101083, 7902317, 7866401, 1676699, 7981715, 1684088; Phenotypes: ARYLSULFATASE A DEFICIENCY, OMIM:250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARPC4 Achchuthan Shanmugasundram reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35047857; Phenotypes: ARPC4-related microcephaly and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARNT2 Achchuthan Shanmugasundram reviewed gene: ARNT2: Rating: RED; Mode of pathogenicity: ; Publications: 24022475; Phenotypes: ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARMC9 Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625504; Phenotypes: Joubert syndrome 30, OMIM:617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARMC4 Achchuthan Shanmugasundram reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849778; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 23, OMIM:615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARL6 Achchuthan Shanmugasundram reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12016587, 11381270, 16582908, 15137946, 12118255, 19956407, 21937992, 20805367, 15314642, 12567324, 22353939, 15258860, 20618352, 16380913, 11567139, 7711739, 16308660, 16606853, 18327255, 10973251, 12837689, 18203199, 8298649, 17160889, 14520415, 9714014, 12524598, 10973238, 20671153, 7987310; Phenotypes: BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, RETINITIS PIGMENTOSA TYPE 55, OMIM:613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARL3 Achchuthan Shanmugasundram reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30269812; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARL14EP Achchuthan Shanmugasundram reviewed gene: ARL14EP: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARID2 Achchuthan Shanmugasundram reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36756859, 28124119; Phenotypes: ARID2-Coffin-Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARID1B Achchuthan Shanmugasundram reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30349098, 22405089, 22426308, 22426309; Phenotypes: COFFIN SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARID1A Achchuthan Shanmugasundram reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COFFIN-SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARHGEF9 Achchuthan Shanmugasundram reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 28589176; Phenotypes: ARHGEF9-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 ARHGEF6 Achchuthan Shanmugasundram reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 46, OMIM:300436; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ARHGAP35 Achchuthan Shanmugasundram reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 28641477; Phenotypes: ARHGAP35-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARHGAP31 Achchuthan Shanmugasundram reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 16451141, 474617; Phenotypes: ADAMS-OLIVER SYNDROME 1, OMIM:100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARG1 Achchuthan Shanmugasundram reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1463019, 1598908, 2365823, 10502833, 7649538; Phenotypes: ARGININEMIA, OMIM:207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARFGEF2 Achchuthan Shanmugasundram reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14647276; Phenotypes: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OMIM:608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARFGEF1 Achchuthan Shanmugasundram reviewed gene: ARFGEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113008; Phenotypes: ARFGEF1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARF3 Achchuthan Shanmugasundram reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36369169; Phenotypes: ARF3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARF1 Achchuthan Shanmugasundram reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28868155, 34353862; Phenotypes: PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ARCN1 Achchuthan Shanmugasundram reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476655; Phenotypes: Microcephalic dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 AR Achchuthan Shanmugasundram reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200, ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ANO5 Achchuthan Shanmugasundram reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307, GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 AMPD2 Achchuthan Shanmugasundram reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23911318; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 AMOTL1 Achchuthan Shanmugasundram reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36751037; Phenotypes: AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ALX4 Achchuthan Shanmugasundram reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRONTONASAL DYSPLASIA 2, OMIM:613451, PARIETAL FORAMINA 2, OMIM:609597; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ALDH3A2 Achchuthan Shanmugasundram reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9250352, 10577908, 10792573, 8528251, 9254849; Phenotypes: sjogren-larsson syndrome, OMIM:270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ALDH1A2 Achchuthan Shanmugasundram reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33565183; Phenotypes: ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ALDH18A1 Achchuthan Shanmugasundram reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26829900, 26297557, 26297558, 26320891, 28228640, 26026163; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, OMIM:612652, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, OMIM:601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3, OMIM:616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 AK2 Achchuthan Shanmugasundram reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19043417, 19043416; Phenotypes: RETICULAR DYSGENESIS, OMIM:267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 AGXT Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8101040; Phenotypes: HYPEROXALURIA, PRIMARY, TYPE 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 AGTPBP1 Achchuthan Shanmugasundram reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30420557, 30976113, 31102495, 28600779; Phenotypes: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 AGA Achchuthan Shanmugasundram reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1765378, 8776587, 6883788; Phenotypes: ASPARTYLGLUCOSAMINURIA, OMIM:208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ADARB1 Achchuthan Shanmugasundram reviewed gene: ADARB1: Rating: RED; Mode of pathogenicity: Other; Publications: 32220291; Phenotypes: ADARB1-associated Microcephaly, Intellectual Disability, and Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ADAR Achchuthan Shanmugasundram reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 16935814, 23001123, 17478391, 24262145, 16817193, 12916015; Phenotypes: AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, OMIM:615010, AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE BIALLELIC, OMIM:615010, DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1, OMIM:127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ACTL6B Achchuthan Shanmugasundram reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28867141, 30656450, 31031012; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ACTG1 Achchuthan Shanmugasundram reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ACTB Achchuthan Shanmugasundram reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29220674, 22366783, 27625340; Phenotypes: ACTB Haploinsufficiency syndtome, BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ACO2 Achchuthan Shanmugasundram reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28545339, 29577077, 29564393, 22405087, 31106992; Phenotypes: INFANTILE CEREBELLAR-RETINAL DEGENERATION, OMIM:614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ABL1 Achchuthan Shanmugasundram reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations, OMIM:617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ABHD5 Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11590543; Phenotypes: CHANARIN-DORFMAN SYNDROME, OMIM:275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ABHD16A Achchuthan Shanmugasundram reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34587489; Phenotypes: ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ABCC6 Achchuthan Shanmugasundram reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835642, 22209248, 10811882, 10835643; Phenotypes: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, OMIM:614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 AARS Achchuthan Shanmugasundram reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817015, 34446925; Phenotypes: EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 YARS2 Achchuthan Shanmugasundram gene: YARS2 was added
gene: YARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 23918765; 30026338; 20598274
Phenotypes for gene: YARS2 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561
DDG2P v3.11 WASHC5 Achchuthan Shanmugasundram gene: WASHC5 was added
gene: WASHC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WASHC5 were set to 24065355
Phenotypes for gene: WASHC5 were set to WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210
DDG2P v3.11 WARS Achchuthan Shanmugasundram gene: WARS was added
gene: WARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WARS were set to 28369220; 31321409; 31069783; 35815345
Phenotypes for gene: WARS were set to WARS1-associated neurodevelopmental syndrome; Distal hereditary motor neuropathy
DDG2P v3.11 USP14 Achchuthan Shanmugasundram gene: USP14 was added
gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to 35066879
Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS
Mode of pathogenicity for gene: USP14 was set to Other
DDG2P v3.11 UQCRFS1 Achchuthan Shanmugasundram gene: UQCRFS1 was added
gene: UQCRFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
DDG2P v3.11 TTC12 Achchuthan Shanmugasundram gene: TTC12 was added
gene: TTC12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to TTC12-related Primary Ciliary Dyskinesia
DDG2P v3.11 TRAPPC2L Achchuthan Shanmugasundram gene: TRAPPC2L was added
gene: TRAPPC2L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC2L were set to 32843486; 30120216
Phenotypes for gene: TRAPPC2L were set to TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331
Mode of pathogenicity for gene: TRAPPC2L was set to Other
DDG2P v3.11 TP73 Achchuthan Shanmugasundram gene: TP73 was added
gene: TP73 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 34077761
Phenotypes for gene: TP73 were set to TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466
DDG2P v3.11 TOGARAM1 Achchuthan Shanmugasundram gene: TOGARAM1 was added
gene: TOGARAM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to TOGARAM1-related ciliopathy
DDG2P v3.11 TMX2 Achchuthan Shanmugasundram gene: TMX2 was added
gene: TMX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293
Phenotypes for gene: TMX2 were set to Primary microcephaly, cortical malformation and epileptic encephalopathy
DDG2P v3.11 TMEM63C Achchuthan Shanmugasundram gene: TMEM63C was added
gene: TMEM63C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM63C were set to 35718349
Phenotypes for gene: TMEM63C were set to TMEM63C-associated hereditary spastic paraplegia
DDG2P v3.11 TMEM240 Achchuthan Shanmugasundram gene: TMEM240 was added
gene: TMEM240 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM240 were set to 30522958; 25070513; 29687291; 32705938; 26813285
Phenotypes for gene: TMEM240 were set to TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454
DDG2P v3.11 TKFC Achchuthan Shanmugasundram gene: TKFC was added
gene: TKFC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to TKFC-related Cataracts and Multisystem Disease
DDG2P v3.11 THG1L Achchuthan Shanmugasundram gene: THG1L was added
gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303
Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800
Mode of pathogenicity for gene: THG1L was set to Other
DDG2P v3.11 TFE3 Achchuthan Shanmugasundram gene: TFE3 was added
gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172
Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder
Mode of pathogenicity for gene: TFE3 was set to Other
DDG2P v3.11 TARS Achchuthan Shanmugasundram Source Expert Review Green was added to TARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 STAR Achchuthan Shanmugasundram Publications for gene: STAR were updated from 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 to 8634702; 8948562; 16968793; 9141542; 7892608; 15546900; 14764819; 10566637; 10323391
DDG2P v3.11 SPRY1 Achchuthan Shanmugasundram gene: SPRY1 was added
gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRY1 were set to 36543535
Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies
Mode of pathogenicity for gene: SPRY1 was set to Other
DDG2P v3.11 SPATA5L1 Achchuthan Shanmugasundram gene: SPATA5L1 was added
gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to SPATA5L1-associated sensorineural hearing loss and intellectual disability
DDG2P v3.11 SPARC Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC.
Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCE1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1.
Mode of pathogenicity for gene SMARCE1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCC2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCB1 Achchuthan Shanmugasundram Publications for gene: SMARCB1 were updated from 25249037; 23929686; 22726846; 23906836; 23815551; 29907796; 22426308 to 9671307; 22726846; 25249037; 23906836; 22426308; 10739763; 10521299; 23929686; 23815551; 29907796
DDG2P v3.11 SMARCA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other
Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308
DDG2P v3.11 SLC25A42 Achchuthan Shanmugasundram gene: SLC25A42 was added
gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
DDG2P v3.11 SARS2 Achchuthan Shanmugasundram gene: SARS2 was added
gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 21255763; 33751860; 24034276
Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845
Mode of pathogenicity for gene: SARS2 was set to Other
DDG2P v3.11 SARS Achchuthan Shanmugasundram gene: SARS was added
gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS were set to 28236339; 34570399; 36041817
Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder
Mode of pathogenicity for gene: SARS was set to Other
DDG2P v3.11 RYR2 Achchuthan Shanmugasundram gene: RYR2 was added
gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 30170228
Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability
Mode of pathogenicity for gene: RYR2 was set to Other
DDG2P v3.11 REST Achchuthan Shanmugasundram gene: REST was added
gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REST were set to 36509837
Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss
Mode of pathogenicity for gene: REST was set to Other
DDG2P v3.11 RARS2 Achchuthan Shanmugasundram Publications for gene: RARS2 were updated from to 34085948
DDG2P v3.11 RARS Achchuthan Shanmugasundram gene: RARS was added
gene: RARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 28905880; 31814314
Phenotypes for gene: RARS were set to RARS1 related hypomyelinating leukodystrophy
DDG2P v3.11 RARB Achchuthan Shanmugasundram Publications for gene: RARB were updated from 24075189 to 27120018; 24075189
DDG2P v3.11 QARS Achchuthan Shanmugasundram Source Expert Review Green was added to QARS.
Mode of pathogenicity for gene QARS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRKAR1B Achchuthan Shanmugasundram gene: PRKAR1B was added
gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1B were set to 33057194; 33833410
Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder
Mode of pathogenicity for gene: PRKAR1B was set to Other
DDG2P v3.11 PRKAR1A Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKAR1A was changed from Other - please provide details in the comments to Other
Publications for gene: PRKAR1A were updated from 22464252; 21651393; 22464250 to 22464250; 22464252; 21651393
DDG2P v3.11 PRIM1 Achchuthan Shanmugasundram gene: PRIM1 was added
gene: PRIM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to PRIM1-related Primordial Dwarfism
DDG2P v3.11 PRDX3 Achchuthan Shanmugasundram gene: PRDX3 was added
gene: PRDX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to 35766882
Phenotypes for gene: PRDX3 were set to PRDX3-associated cerebellar ataxia
DDG2P v3.11 PRDM13 Achchuthan Shanmugasundram gene: PRDM13 was added
gene: PRDM13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 35390279
Phenotypes for gene: PRDM13 were set to PRDM13-related olivopentocerebellar hypoplasia syndrome
DDG2P v3.11 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28069640
Phenotypes for gene: PPP1R13L were set to PPP1R13L-related dilated cardiomyopathy
DDG2P v3.11 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
DDG2P v3.11 POMK Achchuthan Shanmugasundram gene: POMK was added
gene: POMK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 32907597; 31833209; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
DDG2P v3.11 POLE Achchuthan Shanmugasundram gene: POLE was added
gene: POLE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519; 25948378; 35860951; 23230001
Phenotypes for gene: POLE were set to IMAGe Syndrome with variable immunodeficiency
DDG2P v3.11 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310; 34415322; 25855803
Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
DDG2P v3.11 PCYT2 Achchuthan Shanmugasundram gene: PCYT2 was added
gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 32889549; 31637422
Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
DDG2P v3.11 PARP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 OXR1 Achchuthan Shanmugasundram gene: OXR1 was added
gene: OXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
DDG2P v3.11 OGDHL Achchuthan Shanmugasundram gene: OGDHL was added
gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia
DDG2P v3.11 NUP54 Achchuthan Shanmugasundram gene: NUP54 was added
gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP54 were set to 36333996
Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions
Mode of pathogenicity for gene: NUP54 was set to Other
DDG2P v3.11 NKAP Achchuthan Shanmugasundram gene: NKAP was added
gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NKAP were set to 31587868
Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment
Mode of pathogenicity for gene: NKAP was set to Other
DDG2P v3.11 NDUFV2 Achchuthan Shanmugasundram gene: NDUFV2 was added
gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV2 were set to 26008862; 33811136
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Mode of pathogenicity for gene: NDUFV2 was set to Other
DDG2P v3.11 NDUFB7 Achchuthan Shanmugasundram gene: NDUFB7 was added
gene: NDUFB7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047
Phenotypes for gene: NDUFB7 were set to NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy
DDG2P v3.11 NARS2 Achchuthan Shanmugasundram gene: NARS2 was added
gene: NARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 32020600; 25807530; 28716262; 28077841; 25385316; 30327238; 35703918; 34415467; 25629079
Phenotypes for gene: NARS2 were set to NARS2-associated oxidative phosphorylation deficiency
DDG2P v3.11 NARS Achchuthan Shanmugasundram gene: NARS was added
gene: NARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to NARS1 Neurodevelopmental Disorder (monoallelic); NARS1 Neurodevelopmental Disorder (biallelic)
DDG2P v3.11 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 26220525; 32640305; 28115216; 33618624; 24288411
Phenotypes for gene: MYSM1 were set to MYSM1-related congenital bone marrow failure, OMIM:618116
DDG2P v3.11 MYLPF Achchuthan Shanmugasundram gene: MYLPF was added
gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic)
Mode of pathogenicity for gene: MYLPF was set to Other
DDG2P v3.11 MYBPC1 Achchuthan Shanmugasundram gene: MYBPC1 was added
gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868
Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy
DDG2P v3.11 LMNB2 Achchuthan Shanmugasundram gene: LMNB2 was added
gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB2 were set to 33033404
Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly
Mode of pathogenicity for gene: LMNB2 was set to Other
DDG2P v3.11 LARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2.
Mode of pathogenicity for gene LARS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LARP7 Achchuthan Shanmugasundram Publications for gene: LARP7 were updated from 26374271; 21937992; 26607181 to 21937992; 26374271; 26607181
DDG2P v3.11 LARGE1 Achchuthan Shanmugasundram Publications for gene: LARGE1 were updated from 12966029; 21248746 to 17436019; 19299310; 12966029; 21248746; 19067344
DDG2P v3.11 KARS Achchuthan Shanmugasundram Publications for gene: KARS were updated from 23768514 to 20920668; 23768514
DDG2P v3.11 JARID2 Achchuthan Shanmugasundram gene: JARID2 was added
gene: JARID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JARID2 were set to 33077894; 35533077
Phenotypes for gene: JARID2 were set to JARID2-related Neurodevelopmental Disorder
DDG2P v3.11 JAG2 Achchuthan Shanmugasundram gene: JAG2 was added
gene: JAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to JAG2-related muscular dystrophy
DDG2P v3.11 IARS2 Achchuthan Shanmugasundram Publications for gene: IARS2 were updated from 25130867 to 25130867; 28328135
DDG2P v3.11 IARS Achchuthan Shanmugasundram Source Expert Review Green was added to IARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 34906488
Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
DDG2P v3.11 HNRNPA2B1 Achchuthan Shanmugasundram gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPA2B1 were set to 35484142
Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy
DDG2P v3.11 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011
DDG2P v3.11 HARS Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GRID2 Achchuthan Shanmugasundram gene: GRID2 was added
gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174
Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic
DDG2P v3.11 GEMIN5 Achchuthan Shanmugasundram gene: GEMIN5 was added
gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333
DDG2P v3.11 GEMIN4 Achchuthan Shanmugasundram gene: GEMIN4 was added
gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065
Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
Mode of pathogenicity for gene: GEMIN4 was set to Other
DDG2P v3.11 GATA3 Achchuthan Shanmugasundram gene: GATA3 was added
gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to 25510779; 15830275; 30396722; 29026277; 26268891; 23291697; 26316437; 21834031; 27387476; 19723756; 23203342; 29593425; 29073906; 29025137; 25771973; 21242646; 21157112; 21120445; 11389161; 23186964; 23052618; 16509533; 25124981; 31885872; 19952462; 26777049; 19248180; 24434941; 15705923; 26514990; 26800885; 28566604; 19253381; 30534854; 10935639; 21399899; 28303854; 17309062
Phenotypes for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255
DDG2P v3.11 FARS2 Achchuthan Shanmugasundram Publications for gene: FARS2 were updated from 29326872; 28043061; 27095821; 29126765; 27549011 to 29326872; 27549011; 29126765; 28043061; 27095821
DDG2P v3.11 FAR1 Achchuthan Shanmugasundram Publications for gene: FAR1 were updated from to 25439727
DDG2P v3.11 EXOSC2 Achchuthan Shanmugasundram gene: EXOSC2 was added
gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 36069504; 26843489
Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome
DDG2P v3.11 EPCAM Achchuthan Shanmugasundram gene: EPCAM was added
gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410
Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217
DDG2P v3.11 EDAR Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233
DDG2P v3.11 DNAJB4 Achchuthan Shanmugasundram gene: DNAJB4 was added
gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to 36264506
Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure
DDG2P v3.11 DARS Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CYFIP2 Achchuthan Shanmugasundram gene: CYFIP2 was added
gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327
Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468
Mode of pathogenicity for gene: CYFIP2 was set to Other
DDG2P v3.11 COPB1 Achchuthan Shanmugasundram gene: COPB1 was added
gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly
Mode of pathogenicity for gene: COPB1 was set to Other
DDG2P v3.11 COL6A2 Achchuthan Shanmugasundram gene: COL6A2 was added
gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063
Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090
DDG2P v3.11 CHRNA3 Achchuthan Shanmugasundram gene: CHRNA3 was added
gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract
DDG2P v3.11 CDC40 Achchuthan Shanmugasundram gene: CDC40 was added
gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mode of pathogenicity for gene: CDC40 was set to Other
DDG2P v3.11 CARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to CARS2.
Publications for gene: CARS2 were updated from 25787132; 25361775 to 25361775; 25787132
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CARS Achchuthan Shanmugasundram Source Expert Review Green was added to CARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy
DDG2P v3.11 ATL1 Achchuthan Shanmugasundram gene: ATL1 was added
gene: ATL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 35925862
Phenotypes for gene: ATL1 were set to ATL1-associated hereditary spastic paraplegia
DDG2P v3.11 ASNS Achchuthan Shanmugasundram gene: ASNS was added
gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574
DDG2P v3.11 ARX Achchuthan Shanmugasundram Publications for gene: ARX were updated from 14722918; 11891829; 12379852 to 12379852; 21108397; 19606478; 18462864; 19738637; 11971879; 10353782; 12177367; 17668384; 1605226; 11891829; 21204226; 14722918; 11889467
DDG2P v3.11 ARSE Achchuthan Shanmugasundram Publications for gene: ARSE were updated from 9409863; 7720070; 12567415 to 7720070; 12567415; 9409863
DDG2P v3.11 ARSB Achchuthan Shanmugasundram Publications for gene: ARSB were updated from 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 to 1550123; 17643332; 8723688; 1301949; 1718978; 8651289
DDG2P v3.11 ARSA Achchuthan Shanmugasundram Publications for gene: ARSA were updated from 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 to 1670590; 7906588; 8101038; 8104633; 9600244; 11941485; 11456299; 7833949; 7909527; 7858169; 1678251; 7815433; 1353340; 1673291; 12788103; 2574462; 11061266; 8101083; 7902317; 7866401; 1676699; 7981715; 1684088
DDG2P v3.11 ARPC4 Achchuthan Shanmugasundram gene: ARPC4 was added
gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay
Mode of pathogenicity for gene: ARPC4 was set to Other
DDG2P v3.11 ARNT2 Achchuthan Shanmugasundram gene: ARNT2 was added
gene: ARNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475
Phenotypes for gene: ARNT2 were set to ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926
DDG2P v3.11 ARL6 Achchuthan Shanmugasundram Publications for gene: ARL6 were updated from 19956407 to 12016587; 11381270; 7987310; 16582908; 15137946; 12118255; 19956407; 21937992; 20805367; 15314642; 12567324; 22353939; 15258860; 20618352; 11567139; 7711739; 16308660; 16606853; 18327255; 10973251; 12837689; 18203199; 8298649; 17160889; 14520415; 9714014; 12524598; 10973238; 20671153; 16380913
DDG2P v3.11 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARL14EP Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Publications for gene: ARID2 were updated from 28124119 to 36756859; 28124119
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARID1B Achchuthan Shanmugasundram Publications for gene: ARID1B were updated from 22426309; 22426308; 22405089; 30349098 to 30349098; 22426309; 22426308; 22405089
DDG2P v3.11 ARHGEF9 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9.
Mode of inheritance for gene ARHGEF9 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)
Publications for gene: ARHGEF9 were updated from 21633362 to 21633362; 28589176
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ARHGAP35 Achchuthan Shanmugasundram gene: ARHGAP35 was added
gene: ARHGAP35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP35 were set to 33057194; 28641477
Phenotypes for gene: ARHGAP35 were set to ARHGAP35-related developmental disorder (monoallelic)
DDG2P v3.11 ARHGAP31 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGAP31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARG1 Achchuthan Shanmugasundram Publications for gene: ARG1 were updated from 10502833; 2365823; 1463019; 7649538; 1598908 to 1463019; 1598908; 2365823; 10502833; 7649538
DDG2P v3.11 ARFGEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARFGEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARFGEF1 Achchuthan Shanmugasundram gene: ARFGEF1 was added
gene: ARFGEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARFGEF1 were set to 34113008
Phenotypes for gene: ARFGEF1 were set to ARFGEF1-related intellectual disability and epilepsy
DDG2P v3.11 ARF3 Achchuthan Shanmugasundram gene: ARF3 was added
gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF3 were set to 36369169
Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder
Mode of pathogenicity for gene: ARF3 was set to Other
DDG2P v3.11 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF1 were set to 33057194; 28868155; 34353862
Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
Mode of pathogenicity for gene: ARF1 was set to Other
DDG2P v3.11 ARCN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ARCN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Source DD-Gene2Phenotype was added to AMOTL1.
Mode of inheritance for gene AMOTL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature for gene: AMOTL1
Publications for gene: AMOTL1 were updated from PMID: 36751037 to PMID: 36751037; 36751037
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183
Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
Mode of pathogenicity for gene: ALDH1A2 was set to Other
DDG2P v3.11 AGTPBP1 Achchuthan Shanmugasundram gene: AGTPBP1 was added
gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779
Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
DDG2P v3.11 ADARB1 Achchuthan Shanmugasundram gene: ADARB1 was added
gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures
Mode of pathogenicity for gene: ADARB1 was set to Other
DDG2P v3.11 ADAR Achchuthan Shanmugasundram Publications for gene: ADAR were updated from 23001123 to 16935814; 23001123; 17478391; 24262145; 16817193; 12916015
DDG2P v3.11 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34587489
Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
DDG2P v3.11 AARS Achchuthan Shanmugasundram Source Expert Review Green was added to AARS.
Publications for gene: AARS were updated from 25817015 to 25817015; 34446925
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.10 CLCNKA Sarah Leigh Phenotypes for gene: CLCNKA were changed from BARTTER SYNDROME TYPE 4B 613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
DDG2P v3.9 CLCNKA Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
DDG2P v3.8 CLCNKA Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
DDG2P v3.7 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
DDG2P v3.6 MAP4K4 Irina Ziravecka gene: MAP4K4 was added
gene: MAP4K4 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to PMID: 37126546
Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies
Mode of pathogenicity for gene: MAP4K4 was set to Other
Review for gene: MAP4K4 was set to GREEN
Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4.
Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects."
Sources: Literature
DDG2P v3.6 AMOTL1 Irina Ziravecka edited their review of gene: AMOTL1: Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay
DDG2P v3.6 AMOTL1 Irina Ziravecka changed review comment from: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Sources: Other; to: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.
DDG2P v3.6 AMOTL1 Irina Ziravecka gene: AMOTL1 was added
gene: AMOTL1 was added to DDG2P. Sources: Other
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to PMID: 36751037
Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature
Mode of pathogenicity for gene: AMOTL1 was set to Other
Review for gene: AMOTL1 was set to GREEN
Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Sources: Other
DDG2P v3.5 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
DDG2P v3.4 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
DDG2P v2.83 ROR2 Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700; BRACHYDACTYLY, TYPE B1 113000; ROR2-RELATED DISORDERS AR 268310 to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
DDG2P v2.80 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
DDG2P v2.78 RAP1GDS1 Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. It is not currently listed on the DD panel. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.
DDG2P v2.76 AR Eleanor Williams Tag Q3_22_rating tag was added to gene: AR.
Tag Q3_22_expert_review tag was added to gene: AR.
DDG2P v2.76 AR Eleanor Williams commented on gene: AR
DDG2P v2.76 ZNF526 Sarah Leigh Phenotypes for gene: ZNF526 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
DDG2P v2.74 BFSP2 Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.68 PEX6 Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).
DDG2P v2.67 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.67 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
DDG2P v2.60 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN
DDG2P v2.55 PMS2 Dmitrijs Rots changed review comment from: DD is not part of the phenotype. Red on ID list.; to: DD is not part of the phenotype. Red on ID list. Other MMR deficiency genes are not in the panel.
DDG2P v2.55 AR Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy, Androgen insensitivity syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v2.55 TPP2 Dmitrijs Rots gene: TPP2 was added
gene: TPP2 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to PMID: 25414442
Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity
Review for gene: TPP2 was set to GREEN
Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature.
Sources: Literature
DDG2P v2.53 PBX1 Dmitrijs Rots gene: PBX1 was added
gene: PBX1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM.
Sources: Literature
DDG2P v2.53 TARS Arina Puzriakova Tag new-gene-name tag was added to gene: TARS.
DDG2P v2.50 ATG7 Dmitrijs Rots gene: ATG7 was added
gene: ATG7 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to PMID:34161705
Phenotypes for gene: ATG7 were set to developmental delay; ataxia
Review for gene: ATG7 was set to GREEN
Added comment: Zornitsa Stark wrote for this gene in Ataxia panel:
"12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model. "

Should be also on ID panel.
Sources: Literature
DDG2P v2.50 RAP1GDS1 Dmitrijs Rots gene: RAP1GDS1 was added
gene: RAP1GDS1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAP1GDS1 were set to PMID: 33875846
Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay
Review for gene: RAP1GDS1 was set to GREEN
Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071.
Sources: Literature
DDG2P v2.50 TAF4 Dmitrijs Rots gene: TAF4 was added
gene: TAF4 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846
Phenotypes for gene: TAF4 were set to Developmental delay
Penetrance for gene: TAF4 were set to unknown
Review for gene: TAF4 was set to GREEN
Added comment: From the literature:
"A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans."
Sources: Literature
DDG2P v2.50 KPNA3 Dmitrijs Rots gene: KPNA3 was added
gene: KPNA3 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to PMID: 34564892
Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay
Penetrance for gene: KPNA3 were set to unknown
Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KPNA3 was set to GREEN
Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892
Sources: Literature
DDG2P v2.50 PLCB4 Kate Downes reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798; Phenotypes: Auriculocondylar syndrome 2 (OMIM: 614669); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.50 PRDM12 Sarah Leigh Phenotypes for gene: PRDM12 were changed from HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
DDG2P v2.49 TMEM260 Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN
DDG2P v2.48 TMEM260 Sarah Leigh Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome OMIM:617478; Structural heart defects and renal anomalies syndrome MONDO:0044321
DDG2P v2.46 ALG8 Sarah Leigh Added comment: Comment on mode of inheritance: Monoallelic variants are associated with Polycystic liver disease 3 with or without kidney cysts OMIM:617874, which is not relevant to this panel. Therefore biallelic moi is relevant to this panel.
DDG2P v2.42 GNB1 Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
DDG2P v2.41 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255
DDG2P v2.40 TWIST2 Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME 200110; SETLEIS SYNDROME 227260 to ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260
DDG2P v2.39 ZDHHC9 Ivone Leong Added comment: Comment on phenotypes: Previously:
MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799
DDG2P v2.39 ZDHHC9 Ivone Leong Phenotypes for gene: ZDHHC9 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 to Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
DDG2P v2.37 DMPK_CTG Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.35 DMPK Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene.

However, the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected.
DDG2P v2.32 ATP6V1A Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured.
DDG2P v2.31 ATP6V1A Arina Puzriakova Phenotypes for gene: ATP6V1A were changed from Autosomal Recessive Cutis Laxa to Autosomal Recessive Cutis Laxa (AR); Epileptic encephalopathy, infantile or early childhood, 3 (AD)
DDG2P v2.30 ATAD3A Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured.
DDG2P v2.29 SCN8A Arina Puzriakova Phenotypes for gene: SCN8A were changed from COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558
DDG2P v2.28 POLR3B Arina Puzriakova Phenotypes for gene: POLR3B were changed from LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Autosomal recessive mental retardation; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; POLR3B-related neurodevelopmental disorder
DDG2P v2.27 FBN2 Sarah Leigh commented on gene: FBN2: It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal.
DDG2P v2.27 FBN2 Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
DDG2P v2.23 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
DDG2P v2.22 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
DDG2P v2.21 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
DDG2P v2.21 ARMC4 Catherine Snow commented on gene: ARMC4
DDG2P v2.19 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
DDG2P v2.13 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123; SEX REVERSAL TYPE 3 300833 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
DDG2P v2.12 PIGQ Sarah Leigh Added comment: Comment on phenotypes: According to Joanna Peas-Welch (OMIM), Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) will replace Epileptic encephalopathy, early infantile, 77, 618548 as the name for this phenotype (12/11/2020).
DDG2P v2.12 PIGQ Sarah Leigh Phenotypes for gene: PIGQ were changed from SEVERE EARLY-ONSET EPILEPSY to Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
DDG2P v2.11 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 to Microcephaly 15, primary, autosomal recessive, 616486
DDG2P v2.9 ABCC9 Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31575858; Phenotypes: mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.9 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
DDG2P v2.9 SLC12A6 Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721).
DDG2P v2.2 Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
DDG2P v1.181 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
DDG2P v1.180 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
DDG2P v1.177 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
DDG2P v1.175 EDAR Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
DDG2P v1.174 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'BIALLELIC' to 'BOTH AD+AR' to match recent DDG2P update, and to be consistent with OMIM.
DDG2P v1.174 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.170 KDM6B Rebecca Foulger Phenotypes for gene: KDM6B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; KDM6B-related developmental disorder (monoallelic)
DDG2P v1.167 KDM6B Rebecca Foulger commented on gene: KDM6B: Updated rating from Red to Amber to match current DDG2P ratings:
DDG2P rating of probable for KDM6B-related developmental disorder (monoallelic): monoallelic, loss of function.
DDG2P rating of possible for AUTOSOMAL RECESSIVE MENTAL RETARDATION: biallelic, all missense/in frame.
DDG2P v1.167 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to 'MONOALLELIC' to match current DDG2P Allelic requirement, which is 'monoallelic' for confirmed MARFAN SYNDROME, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
DDG2P v1.166 EMC1 Rebecca Foulger Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
DDG2P v1.165 EMC1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH Monoallelic and biallelic' to just 'BIALLELIC' to match MOI of highest rated disorder (Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic).
DDG2P v1.164 EMC1 Rebecca Foulger commented on gene: EMC1: As of November 26th 2019, DDG2P ratings are:
probable for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic (biallelic, loss of function).
possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic (monoallelic, dominant negative).
possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy (monoallelic, dominant negative.
DDG2P v1.162 CRYBB1 Rebecca Foulger changed review comment from: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function); to: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES (biallelic, loss of function)
DDG2P v1.162 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
DDG2P v1.161 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
DDG2P v1.160 CRYBB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH MONOALLELIC AND BIALLELIC' to 'MONOALLELIC only, to match MOI of confirmed disorder (CATARACT 17, MULTIPLE TYPES, MONOALLELIC).
DDG2P v1.159 CRYBB1 Rebecca Foulger commented on gene: CRYBB1: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P v1.159 COMP Rebecca Foulger Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170
DDG2P v1.156 CACNA1G Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for AUTOSOMAL RECESSIVE MENTAL RETARDATION: possible. Allelic requirement: biallelic. Mutation consequence: loss of function.
DDG2P v1.156 CACNA1G Rebecca Foulger Phenotypes for gene: CACNA1G were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CACNA1G-related developmental disorder (monoallelic)
DDG2P v1.154 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'both MONOALLELIC and BIALLELIC' to just 'MONOALLELIC' to match the Monoallelic MOI of SIM1 on the 'Severe early-onset obesity' panel v2.0.
DDG2P v1.151 WDFY3 Rebecca Foulger gene: WDFY3 was added
gene: WDFY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDFY3 were set to 31327001
Phenotypes for gene: WDFY3 were set to Primary Microcephaly or macrocephaly with developmental delay
DDG2P v1.151 SMPD4 Rebecca Foulger gene: SMPD4 was added
gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis
DDG2P v1.151 MYRF Rebecca Foulger gene: MYRF was added
gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761
Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
DDG2P v1.151 KCNA4 Rebecca Foulger gene: KCNA4 was added
gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability.
Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments
DDG2P v1.151 DACT1 Rebecca Foulger gene: DACT1 was added
gene: DACT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DACT1 was set to
Publications for gene: DACT1 were set to 28054444; 22610794
Phenotypes for gene: DACT1 were set to Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems
DDG2P v1.151 CDH2 Rebecca Foulger gene: CDH2 was added
gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments
DDG2P v1.150 NUP107 Rebecca Foulger Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
DDG2P v1.148 NUP107 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic.
DDG2P v1.146 FAM58A Rebecca Foulger commented on gene: FAM58A: The Gene2Phenotype allelic requirement for STAR SYNDROME has been updated to x-linked dominant, to match the recent update in PanelApp.
DDG2P v1.146 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
DDG2P v1.142 FAM58A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A is an X-linked gene.
DDG2P v1.141 FAM58A Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. Gene symbol used in Original DD-G2P gene list is CCNQ.; to: Original DDG2P rating: confirmed for STAR SYNDROME. Gene symbol used in Original DD-G2P gene list is CCNQ. DDG2P allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.136 SMAD4 Rebecca Foulger Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050
DDG2P v1.135 ALX4 Rebecca Foulger Phenotypes for gene: ALX4 were changed from PARIETAL FORAMINA 2 221704; FRONTONASAL DYSPLASIA 2 605420 to PARIETAL FORAMINA 2 609597; FRONTONASAL DYSPLASIA 2 613451
DDG2P v1.134 SALL4 Rebecca Foulger Phenotypes for gene: SALL4 were changed from ACRO-RENAL-OCULAR SYNDROME 217001; DUANE-RADIAL RAY SYNDROME 173212 to ACRO-RENAL-OCULAR SYNDROME 607323; DUANE-RADIAL RAY SYNDROME 607323
DDG2P v1.132 ARID1B Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). ; to: Original DDG2P rating: confirmed (for both disorders: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900).
DDG2P v1.132 ARID1B Rebecca Foulger Phenotypes for gene: ARID1B were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562; COFFIN SIRIS SYNDROME to MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900
DDG2P v1.131 KARS Rebecca Foulger commented on gene: KARS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v1.131 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v1.131 ALDOB Rebecca Foulger commented on gene: ALDOB: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v1.131 DARS2 Rebecca Foulger commented on gene: DARS2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v1.131 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PARKINSON DISEASE 9.
DDG2P v1.131 ANO5 Rebecca Foulger commented on gene: ANO5: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA.
DDG2P v1.131 SYNE1 Rebecca Foulger commented on gene: SYNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE.
DDG2P v1.131 LDB3 Rebecca Foulger commented on gene: LDB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v1.131 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v1.131 AGXT Rebecca Foulger commented on gene: AGXT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v1.131 GJB3 Rebecca Foulger commented on gene: GJB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v1.131 SMAD4 Rebecca Foulger commented on gene: SMAD4: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME.
DDG2P v1.131 AR Rebecca Foulger commented on gene: AR: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY.
DDG2P v1.131 FMR1 Rebecca Foulger commented on gene: FMR1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1.
DDG2P v1.131 CDH1 Rebecca Foulger commented on gene: CDH1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v1.131 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v1.131 POLD1 Rebecca Foulger commented on gene: POLD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM .
DDG2P v1.131 MYH8 Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT.
DDG2P v1.131 LMNA Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B.
DDG2P v1.131 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD.
DDG2P v1.130 TARS Rebecca Foulger reviewed gene: TARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 SMARCD1 Rebecca Foulger reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.129 TARS Rebecca Foulger gene: TARS was added
gene: TARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Non-photosensitive trichothiodystrophy
DDG2P v1.129 LEMD2 Rebecca Foulger gene: LEMD2 was added
gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to 30905398
Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance
Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments
DDG2P v1.129 BNC2 Rebecca Foulger gene: BNC2 was added
gene: BNC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BNC2 were set to 31051115
Phenotypes for gene: BNC2 were set to Congenital Lower Urinary Tract Obstruction
DDG2P v1.129 B3GAT3 Rebecca Foulger gene: B3GAT3 was added
gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 31438591
Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600
Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments
DDG2P v1.129 SMARCD1 Rebecca Foulger gene: SMARCD1 was added
gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments
DDG2P v1.129 GOT2 Rebecca Foulger gene: GOT2 was added
gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy
Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments
DDG2P v1.126 MYH6 Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v1.126 MYH6 Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v1.126 MYH6 Rebecca Foulger Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089
DDG2P v1.121 ACTL6B Rebecca Foulger Added comment: Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE.
DDG2P v1.120 ACTL6B Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence.
DDG2P v1.119 ACTL6B Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings.
DDG2P v1.118 ACTL6B Rebecca Foulger commented on gene: ACTL6B: Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019:

New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic.

New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic.
DDG2P v1.117 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
DDG2P v1.116 FAT4 Rebecca Foulger Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006; VAN MALDERGEM SYNDROME 615546
DDG2P v1.115 FAT4 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for PERIVENTRICULAR NEURONAL HETEROTOPIA: confirmed. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.109 FLNA Rebecca Foulger commented on gene: FLNA: New gene:disorder association added to DDG2P, September 2019: PERIVENTRICULAR NODULAR HETEROTOPIA 1. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: x-linked dominant.
DDG2P v1.109 FLNA Rebecca Foulger Phenotypes for gene: FLNA were changed from FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 to PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049; FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244
DDG2P v1.108 CLIC2 Rebecca Foulger Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32 to Mental retardation, X-linked, syndromic 32 300886
DDG2P v1.106 GDI1 Rebecca Foulger Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 48 300104; MENTAL RETARDATION X-LINKED TYPE 41 300104 to MENTAL RETARDATION X-LINKED TYPE 48 300849; MENTAL RETARDATION X-LINKED TYPE 41 300849
DDG2P v1.104 TPM2 Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
DDG2P v1.101 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations 617602
DDG2P v1.96 MITF Rebecca Foulger Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510
DDG2P v1.95 LAMA1 Rebecca Foulger Phenotypes for gene: LAMA1 were changed from CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY; AUTOSOMAL RECESSIVE MENTAL RETARDATION to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960; AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v1.94 ITPR1 Rebecca Foulger Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome to SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700
DDG2P v1.92 FGFR1 Rebecca Foulger Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis to PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001
DDG2P v1.87 CRYGD Rebecca Foulger Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 608983; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700
DDG2P v1.86 CRYAA Rebecca Foulger Phenotypes for gene: CRYAA were changed from CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580 to CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
DDG2P v1.83 CDH3 Rebecca Foulger Phenotypes for gene: CDH3 were changed from EEM SYNDROME 280238; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 to EEM SYNDROME 225280; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
DDG2P v1.80 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
DDG2P v1.80 ARSE Louise Daugherty commented on gene: ARSE
DDG2P v1.80 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
DDG2P v1.80 HARS Louise Daugherty commented on gene: HARS
DDG2P v1.80 CARS Louise Daugherty Tag new-gene-name tag was added to gene: CARS.
DDG2P v1.80 CARS Louise Daugherty commented on gene: CARS
DDG2P v1.80 IARS Louise Daugherty Tag new-gene-name tag was added to gene: IARS.
DDG2P v1.80 IARS Louise Daugherty commented on gene: IARS
DDG2P v1.80 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
DDG2P v1.80 QARS Louise Daugherty commented on gene: QARS
DDG2P v1.80 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
DDG2P v1.80 KARS Louise Daugherty commented on gene: KARS
DDG2P v1.80 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
DDG2P v1.80 AARS Louise Daugherty commented on gene: AARS
DDG2P v1.80 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
DDG2P v1.80 DARS Louise Daugherty commented on gene: DARS
DDG2P v1.78 PIH1D3 Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.
DDG2P v1.77 KARS Rebecca Foulger Source Expert Review Green was added to KARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 DARS2 Rebecca Foulger Source Expert Review Green was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AR Rebecca Foulger Source Expert Review Green was added to AR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.76 ANO5 Rebecca Foulger commented on gene: ANO5: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v1.76 KARS Rebecca Foulger commented on gene: KARS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AR Rebecca Foulger commented on gene: AR: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.75 PCDH19 Rebecca Foulger Added comment: Comment on mode of inheritance: Note that the allelic requirement for PCDH19 in Gene2Phenotype is x-linked over-dominance. Note from Anna de Burca (Genomics England clinical team): PCDH19 only causes epilepsy in heterozygous females, and hemizygous males are unaffected. For the purposes of the pipeline, use 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease' to ensure that females with a variant are not missed.
DDG2P v1.74 PCDH19 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'x-linked over dominance' to a PanelApp standardised MOI term.
DDG2P v1.66 FMR1 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P mode of inheritance is hemizygous for FRAGILE X SYNDROME (confirmed); hemizygous for FRAGILE X TREMOR/ATAXIA SYNDROME (both DD and IF); x-linked dominant for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (both DD and IF).
DDG2P v1.65 EFNB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'x-linked over-dominance' to standardised PanelApp term for X-linked dominant; this matches the MOI of EFNB1 on other PanelApp panels.
DDG2P v1.64 ADAR Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.63 ADAR Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is both monoallelic and biallelic for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; monoallelic for DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1. Both disorders have a confirmed Disease confidence rating.
DDG2P v1.63 ADAR Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.62 ALDH18A1 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is monoallelic for CUTIS LAXA, AUTOSOMAL DOMINANT 3;biallelic for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; monoallelic for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT. All disorders have a confirmed Disease confidence rating.
DDG2P v1.61 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed MARFAN SYNDROME; monoallelic for confirmed MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; monoallelic for confirmed SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME.
DDG2P v1.60 GJC2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for LEUKODYSTROPHY, HYPOMYELINATING, 2; monoallelic for LYMPHEDEMA, HEREDITARY, IC; monoallelic for SPASTIC PARAPLEGIA, 44. All disorders have a confirmed Disease confidence rating.
DDG2P v1.57 KIF1A Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as monoallelic for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (all missense/in frame); biallelic for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (loss of function).
DDG2P v1.53 NALCN Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; biallelic for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; biallelic for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. All diseases have a Confirmed Disease Confidence rating.
DDG2P v1.52 PIEZO2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating.
DDG2P v1.50 PTH1R Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for CHONDRODYSPLASIA BLOMSTRAND TYPE; biallelic for EIKEN SKELETAL DYSPLASIA; monoallelic for ANSEN METAPHYSEAL CHONDRODYSPLASIA; monoallelic for PRIMARY FAILURE OF TOOTH ERUPTION. All diseases have a confirmed Disease confidence rating.
DDG2P v1.41 SIM1 Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
DDG2P v1.41 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665).
DDG2P v1.39 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
DDG2P v1.38 SMARCC2 Rebecca Foulger reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CARS Rebecca Foulger reviewed gene: CARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ARL3 Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.37 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism
DDG2P v1.37 TMEM94 Rebecca Foulger gene: TMEM94 was added
gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism
DDG2P v1.37 SMARCC2 Rebecca Foulger gene: SMARCC2 was added
gene: SMARCC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Syndromic Intellectual Disability and Developmental Delay
DDG2P v1.37 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
DDG2P v1.37 PMPCB Rebecca Foulger gene: PMPCB was added
gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood
Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments
DDG2P v1.37 NDUFA6 Rebecca Foulger gene: NDUFA6 was added
gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency
DDG2P v1.37 MRPS2 Rebecca Foulger gene: MRPS2 was added
gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS2 were set to 29576219
Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies
Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments
DDG2P v1.37 MAPK8IP3 Rebecca Foulger gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies
DDG2P v1.37 GAS2L2 Rebecca Foulger gene: GAS2L2 was added
gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance
DDG2P v1.37 EXOSC9 Rebecca Foulger gene: EXOSC9 was added
gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXOSC9 was set to
Publications for gene: EXOSC9 were set to 29727687
Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy
DDG2P v1.37 CNPY3 Rebecca Foulger gene: CNPY3 was added
gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNPY3 were set to 29394991
Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY
DDG2P v1.37 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v1.37 CARS Rebecca Foulger gene: CARS was added
gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to 30824121
Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails
DDG2P v1.37 ARL3 Rebecca Foulger gene: ARL3 was added
gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812
Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615
Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments
DDG2P v1.36 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal to CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: Added 'watchlist' tag to highlight different DD-G2P Disease confidence ratings for different disorders: Rated confirmed for DESBUQUOIS DYSPLASIA 2. Rated probable for 'Baratela Scott Syndrome (added to Gene2Phenotype, March 2019).
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic.
DDG2P v1.34 XYLT1 Rebecca Foulger Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777 to DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome
DDG2P v1.33 TRAF7 Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism).
DDG2P v1.32 TRAF7 Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.30 POLR3A Rebecca Foulger commented on gene: POLR3A: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.30 PCGF2 Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
DDG2P v1.30 PCGF2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal).
DDG2P v1.29 PCGF2 Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.29 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
DDG2P v1.25 NFIB Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry.
DDG2P v1.25 MYH3 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B.
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence.
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.23 MYH3 Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v1.22 LRRC56 Rebecca Foulger commented on gene: LRRC56: Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable.
DDG2P v1.22 LRRC56 Rebecca Foulger Added comment: Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing).
DDG2P v1.20 KCNK4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019.
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.18 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP.
DDG2P v1.18 FBXO11 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Red to Green to reflect new 'confirmed' gene-disorder association added to DD-G2P in March 2019: Variable Neurodevelopmental Disorder.
DDG2P v1.17 FBXO11 Rebecca Foulger Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability to FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder
DDG2P v1.16 FBXO11 Rebecca Foulger commented on gene: FBXO11: New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
DDG2P v1.15 DSTYK Rebecca Foulger Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805; Autosomal Recessive Complicated Spastic Paraparesis SPG23
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019).
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.14 COG4 Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition).
DDG2P v1.12 CACNA1E Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'.
DDG2P v1.11 CACNA1E Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.10 TTN Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot.
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds.
DDG2P v1.9 NR2F2 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotype from 'CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779' to 'CONGENITAL HEART DEFECTS and XX sex reversal' to match DD-Gene2Phenotype.
DDG2P v1.9 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 to Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.8 ASCC1 Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
DDG2P v1.8 FBXW4 Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other
DDG2P v1.7 FARS2 Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.6 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.5 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
DDG2P v0.95 ANO5 Rebecca Foulger commented on gene: ANO5: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v0.95 PIH1D3 Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
DDG2P v0.95 AFG3L2 Rebecca Foulger commented on gene: AFG3L2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE.
DDG2P v0.95 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
DDG2P v0.95 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
DDG2P v0.95 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.
DDG2P v0.95 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v0.95 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v0.95 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR.
DDG2P v0.95 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM.
DDG2P v0.95 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE.
DDG2P v0.95 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v0.95 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE.
DDG2P v0.95 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v0.95 KARS Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v0.95 GJB3 Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v0.95 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v0.95 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v0.95 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v0.95 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9.
DDG2P v0.95 AR Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME.
DDG2P v0.95 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v0.95 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v0.94 KARS Rebecca Foulger Source Expert Review Amber was added to KARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 DARS2 Rebecca Foulger Source Expert Review Amber was added to DARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AR Rebecca Foulger Source Expert Review Amber was added to AR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.93 UFC1 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'.
DDG2P v0.90 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive).
DDG2P v0.90 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 TWIST2 Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; KENNY-CAFFEY SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 MITF Rebecca Foulger edited their review of gene: MITF: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 MAFB Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN
DDG2P v0.55 LRP2 Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN
DDG2P v0.55 GJA1 Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN
DDG2P v0.55 CRYGD Rebecca Foulger edited their review of gene: CRYGD: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3. ; Changed rating: GREEN
DDG2P v0.55 CRYGC Rebecca Foulger edited their review of gene: CRYGC: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT.; Changed rating: GREEN
DDG2P v0.55 CRYBA4 Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN
DDG2P v0.55 CRADD Rebecca Foulger commented on gene: CRADD: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly.
DDG2P v0.55 ATAD3A Rebecca Foulger edited their review of gene: ATAD3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.; Changed rating: GREEN
DDG2P v0.50 SMARCB1 Rebecca Foulger commented on gene: SMARCB1: MOP for EHMT1-like SYNDROME: all missense/in frame. Rating for EHMT1-like SYNDROME: confirmed. MOI for EHMT1-like SYNDROME: monoallelic. MOP for RHABDOID PREDISPOSITION SYNDROME 1: loss of function. Rating for RHABDOID PREDISPOSITION SYNDROME 1: confirmed. MOI for RHABDOID PREDISPOSITION SYNDROME 1: monoallelic.
DDG2P v0.49 DNMT3A Rebecca Foulger Phenotypes for gene: DNMT3A were changed from Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879; Microcephalic primordial dwarfism
DDG2P v0.47 CDKN1C Rebecca Foulger commented on gene: CDKN1C: DDG2P update (curated 15th January 2019): MOI currently listed as 'imprinted' for both 'BECKWITH-WIEDEMANN SYNDROME' and IMAGe Syndrome. MOP curerntly listed as 'loss of function' for 'BECKWITH-WIEDEMANN SYNDROME' and 'gain of function' for 'IMAGe Syndrome'.
DDG2P v0.43 H3F3A Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders.
DDG2P v0.30 ARID1B Rebecca Foulger Publications for gene: ARID1B were set to 22426309; 22426308; 22405089
DDG2P v0.29 SMARCB1 Rebecca Foulger Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322
DDG2P v0.28 SMARCB1 Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299
DDG2P v0.25 MAF Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update.
DDG2P v0.25 MAF Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202
DDG2P v0.24 FLNA Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders.
DDG2P v0.24 NFIA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'.
DDG2P v0.22 Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel
DDG2P v0.21 Ellen McDonagh Panel types changed to GMS Rare Disease
DDG2P v0.18 LRRC56 Rebecca Foulger gene: LRRC56 was added
gene: LRRC56 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRRC56 was set to
Phenotypes for gene: LRRC56 were set to Mucociliary Clearance and Laterality Defects
DDG2P v0.16 KLHL7 Rebecca Foulger Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
DDG2P v0.15 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Fontaine progeroid syndrome
DDG2P v0.14 DNMT3A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is V0 and unreviewed, based on DDG2P rating for newly added disorder: Rated confirmed by DDG2P for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), formerly called OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879. Rated probable by DDG2P for Microcephalic primordial dwarfism.
DDG2P v0.13 DNMT3A Rebecca Foulger Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism
DDG2P v0.9 SLC25A4 Rebecca Foulger edited their review of gene: SLC25A4: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.; Changed publications: 30329211; Changed phenotypes: Fontaine progeroid syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.9 KLHL7 Rebecca Foulger edited their review of gene: KLHL7: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.; Changed phenotypes: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
DDG2P v0.9 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: New gene:disorder association added to DDG2P on 06/11/2018: Microcephalic primordial dwarfism. Multiple DDG2P ratings: Rated confirmed for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 and rated probable for Microcephalic primordial dwarfism. Multiple MOPs in DDG2P: gain of function for Microcephalic primordial dwarfism, and loss of function for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879.; Changed phenotypes: Microcephalic primordial dwarfism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.3 C2orf71 Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE.
DDG2P v0.3 MTMR14 Rebecca Foulger commented on gene: MTMR14: polygenic tag added: In DD-G2P download, digenic MOI listed for CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150.
DDG2P v0.3 PIK3CA Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501.
DDG2P v0.3 GNA14 Rebecca Foulger commented on gene: GNA14: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital vascular tumours.
DDG2P v0.3 GNAS Rebecca Foulger commented on gene: GNAS: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080.
DDG2P v0.2 STAR Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SPARC Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCE1 Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCB1 Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCAL1 Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCA4 Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SMARCA2 Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCARF2 Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RARS2 Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RARB Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QARS Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PARP1 Rebecca Foulger reviewed gene: PARP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PARN Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LARS2 Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LARP7 Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LARGE1 Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KARS Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IARS2 Rebecca Foulger reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IARS Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HARS Rebecca Foulger reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAR1 Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERMARD Rebecca Foulger reviewed gene: ERMARD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EDAR Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DARS2 Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DARS Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CARS2 Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARX Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARSB Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARSA Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARMC9 Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARMC4 Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARL6 Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARL14EP Rebecca Foulger reviewed gene: ARL14EP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARID2 Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARID1B Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARID1A Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARHGEF9 Rebecca Foulger reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARHGEF6 Rebecca Foulger reviewed gene: ARHGEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARHGAP31 Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARG1 Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARFGEF2 Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARCN1 Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AR Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AARS Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 ZNF711 Rebecca Foulger gene: ZNF711 was added
gene: ZNF711 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZNF711 were set to 19377476
Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803
DDG2P v0.1 ZNF526 Rebecca Foulger gene: ZNF526 was added
gene: ZNF526 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992
Phenotypes for gene: ZNF526 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ZNF526 was set to Other - please provide details in the comments
DDG2P v0.1 ZMYND10 Rebecca Foulger gene: ZMYND10 was added
gene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMYND10 were set to 23891471
Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444
DDG2P v0.1 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 11342696; 19805727; 18098276; 17661097
Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700
DDG2P v0.1 ZDHHC9 Rebecca Foulger gene: ZDHHC9 was added
gene: ZDHHC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to 17436253; 26000327
Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799
DDG2P v0.1 ZDHHC15 Rebecca Foulger gene: ZDHHC15 was added
gene: ZDHHC15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZDHHC15 were set to 15915161
Phenotypes for gene: ZDHHC15 were set to MENTAL RETARDATION X-LINKED TYPE 91 300577
DDG2P v0.1 ZCCHC8 Rebecca Foulger gene: ZCCHC8 was added
gene: ZCCHC8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZCCHC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZCCHC8 were set to 21937992
Phenotypes for gene: ZCCHC8 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 ZC4H2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 for gene: ZC4H2
DDG2P v0.1 ZC4H2 Rebecca Foulger gene: ZC4H2 was added
gene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZC4H2 were set to 4039531; 1915520; 23623388
Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580
DDG2P v0.1 ZBTB40 Rebecca Foulger gene: ZBTB40 was added
gene: ZBTB40 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB40 were set to 21937992
Phenotypes for gene: ZBTB40 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 ZBTB16 Rebecca Foulger gene: ZBTB16 was added
gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447
Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments
DDG2P v0.1 YWHAG Rebecca Foulger gene: YWHAG was added
gene: YWHAG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAG were set to 28777935
Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy
Mode of pathogenicity for gene: YWHAG was set to Other - please provide details in the comments
DDG2P v0.1 YAP1 Rebecca Foulger gene: YAP1 was added
gene: YAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YAP1 were set to 24462371
Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433
DDG2P v0.1 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496
Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME 605822
DDG2P v0.1 XRCC4 Rebecca Foulger gene: XRCC4 was added
gene: XRCC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25728776
Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM 615272
DDG2P v0.1 WWOX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 for gene: WWOX
Publications for gene WWOX were changed from 24369382 to 24456803
DDG2P v0.1 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WWOX were set to 24369382
Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322
DDG2P v0.1 WDR81 Rebecca Foulger gene: WDR81 was added
gene: WDR81 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 21885617
Phenotypes for gene: WDR81 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185
Mode of pathogenicity for gene: WDR81 was set to Other - please provide details in the comments
DDG2P v0.1 WDR62 Rebecca Foulger gene: WDR62 was added
gene: WDR62 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR62 were set to 21834044; 10573015; 20890279; 20729831; 20890278
Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317
DDG2P v0.1 WDR45B Rebecca Foulger gene: WDR45B was added
gene: WDR45B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992
Phenotypes for gene: WDR45B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: WDR45B was set to Other - please provide details in the comments
DDG2P v0.1 WDPCP Rebecca Foulger gene: WDPCP was added
gene: WDPCP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 209900
DDG2P v0.1 VSX2 Rebecca Foulger gene: VSX2 was added
gene: VSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092
DDG2P v0.1 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 19646678; 21937992
Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
DDG2P v0.1 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164
DDG2P v0.1 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VLDLR were set to 18043714; 18326629; 16080122
Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050
DDG2P v0.1 VIPAS39 Rebecca Foulger gene: VIPAS39 was added
gene: VIPAS39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404
DDG2P v0.1 USP9X Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 300919 for gene: USP9X
DDG2P v0.1 USP9X Rebecca Foulger gene: USP9X was added
gene: USP9X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: USP9X were set to 24607389; 26833328
Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 300919
DDG2P v0.1 UPF3B Rebecca Foulger gene: UPF3B was added
gene: UPF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: UPF3B were set to 17704778
Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676
DDG2P v0.1 UNC80 Rebecca Foulger gene: UNC80 was added
gene: UNC80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC80 were set to 26708751; 26708753
Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
DDG2P v0.1 UGT1A1 Rebecca Foulger gene: UGT1A1 was added
gene: UGT1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGT1A1 were set to 11968090; 9039987; 9497253; 9295054
Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I 218800
DDG2P v0.1 UFM1 Rebecca Foulger gene: UFM1 was added
gene: UFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly,
DDG2P v0.1 UFC1 Rebecca Foulger gene: UFC1 was added
gene: UFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UFC1 was set to
Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly
DDG2P v0.1 UBR7 Rebecca Foulger gene: UBR7 was added
gene: UBR7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 21937992
Phenotypes for gene: UBR7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: UBR7 was set to Other - please provide details in the comments
DDG2P v0.1 UBR1 Rebecca Foulger gene: UBR1 was added
gene: UBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR1 were set to 16311597; 19006206; 18553553
Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME 243800
DDG2P v0.1 UBE3B Rebecca Foulger gene: UBE3B was added
gene: UBE3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3B were set to 21567902; 23200864
Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057
DDG2P v0.1 UBE2A Rebecca Foulger gene: UBE2A was added
gene: UBE2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562
DDG2P v0.1 TWIST2 Rebecca Foulger gene: TWIST2 was added
gene: TWIST2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWIST2 were set to 26119818
Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME 200110
DDG2P v0.1 TUSC3 Rebecca Foulger gene: TUSC3 was added
gene: TUSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUSC3 were set to 18455129; 21739581
Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093
DDG2P v0.1 TUBGCP6 Rebecca Foulger gene: TUBGCP6 was added
gene: TUBGCP6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP6 were set to 22279524
Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270
DDG2P v0.1 TUBB3 Rebecca Foulger gene: TUBB3 was added
gene: TUBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB3 were set to 20074521
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638
Mode of pathogenicity for gene: TUBB3 was set to Other - please provide details in the comments
DDG2P v0.1 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 17444505
Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705
DDG2P v0.1 TTI2 Rebecca Foulger gene: TTI2 was added
gene: TTI2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI2 were set to 21937992
Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: TTI2 was set to Other - please provide details in the comments
DDG2P v0.1 TTC8 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 209900 for gene: TTC8
DDG2P v0.1 TTC25 Rebecca Foulger gene: TTC25 was added
gene: TTC25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC25 were set to 27486780
Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
DDG2P v0.1 TSPAN7 Rebecca Foulger gene: TSPAN7 was added
gene: TSPAN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSPAN7 were set to 10449641; 10655063
Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 300210
DDG2P v0.1 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
DDG2P v0.1 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments
DDG2P v0.1 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Mode of pathogenicity for gene: TSEN2 was set to Other - please provide details in the comments
DDG2P v0.1 TSEN15 Rebecca Foulger gene: TSEN15 was added
gene: TSEN15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to 27392077
Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly
Mode of pathogenicity for gene: TSEN15 was set to Other - please provide details in the comments
DDG2P v0.1 TRPM1 Rebecca Foulger gene: TRPM1 was added
gene: TRPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM1 were set to 19878917; 20300565; 19896109; 19896113
Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216
DDG2P v0.1 TRMT1 Rebecca Foulger gene: TRMT1 was added
gene: TRMT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 21937992
Phenotypes for gene: TRMT1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 TRIP4 Rebecca Foulger gene: TRIP4 was added
gene: TRIP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529
Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
DDG2P v0.1 TRIP13 Rebecca Foulger gene: TRIP13 was added
gene: TRIP13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP13 were set to 28553959
Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour
DDG2P v0.1 TRIM32 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 for gene: TRIM32
Publications for gene TRIM32 were changed from to 11822024; 17994549
DDG2P v0.1 TRIM32 Rebecca Foulger gene: TRIM32 was added
gene: TRIM32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 209900
DDG2P v0.1 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 17357087; 16845398
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750
DDG2P v0.1 TRAPPC9 Rebecca Foulger gene: TRAPPC9 was added
gene: TRAPPC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC9 were set to 22549410; 20004763; 17120046; 20004764
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192
DDG2P v0.1 TRAPPC2 Rebecca Foulger gene: TRAPPC2 was added
gene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400
DDG2P v0.1 TRAPPC11 Rebecca Foulger gene: TRAPPC11 was added
gene: TRAPPC11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518
Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356
DDG2P v0.1 TRAIP Rebecca Foulger gene: TRAIP was added
gene: TRAIP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAIP were set to 26595769
Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM 615272
DDG2P v0.1 TPM2 Rebecca Foulger gene: TPM2 was added
gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPM2 were set to 12592607
Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1
Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments
DDG2P v0.1 TP63 Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME 603543 for gene: TP63
Publications for gene TP63 were changed from 11528512; 11929852; 16114047; 19530185; 16724007 to 11462173
DDG2P v0.1 TP63 Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 for gene: TP63
Publications for gene TP63 were changed from 3366140; 10839977; 15736220 to 19239083; 11159940; 10886756
DDG2P v0.1 TOE1 Rebecca Foulger gene: TOE1 was added
gene: TOE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOE1 were set to 28092684
Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA
DDG2P v0.1 TNFRSF13B Rebecca Foulger gene: TNFRSF13B was added
gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF13B were set to 16007086
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500
DDG2P v0.1 TMEM70 Rebecca Foulger gene: TMEM70 was added
gene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 18953340; 21147908
Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052
DDG2P v0.1 TMEM260 Rebecca Foulger gene: TMEM260 was added
gene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM260 were set to 28318500
Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome
DDG2P v0.1 TMEM135 Rebecca Foulger gene: TMEM135 was added
gene: TMEM135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM135 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM135 were set to 21937992
Phenotypes for gene: TMEM135 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: TMEM135 was set to Other - please provide details in the comments
DDG2P v0.1 TMEM114 Rebecca Foulger gene: TMEM114 was added
gene: TMEM114 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM114 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM114 were set to 17492639
Phenotypes for gene: TMEM114 were set to CONGENITAL AND JUVENILE CATARACT 611579
DDG2P v0.1 TMCO1 Rebecca Foulger gene: TMCO1 was added
gene: TMCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMCO1 were set to 20018682
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980
DDG2P v0.1 TKT Rebecca Foulger gene: TKT was added
gene: TKT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects
DDG2P v0.1 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 18252230
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
DDG2P v0.1 THOC2 Rebecca Foulger gene: THOC2 was added
gene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: THOC2 were set to 26166480
Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957
Mode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments
DDG2P v0.1 TFAP2B Rebecca Foulger gene: TFAP2B was added
gene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TFAP2B were set to 11505339; 10802654; 7645594
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100
Mode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments
DDG2P v0.1 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824
Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS 615031
DDG2P v0.1 TDRD7 Rebecca Foulger gene: TDRD7 was added
gene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887
Mode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments
DDG2P v0.1 TBX3 Rebecca Foulger gene: TBX3 was added
gene: TBX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX3 were set to 19938096; 9207801; 12116211; 12668170
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME 181450
DDG2P v0.1 TBX18 Rebecca Foulger gene: TBX18 was added
gene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX18 were set to 26235987
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400
DDG2P v0.1 TBCE Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE
Publications for gene TBCE were changed from 12389028 to 27666369
DDG2P v0.1 TBCE Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410 for gene: TBCE
DDG2P v0.1 TBCD Rebecca Foulger gene: TBCD was added
gene: TBCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666374; 27666370
Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy
DDG2P v0.1 TBC1D24 Rebecca Foulger gene: TBC1D24 was added
gene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617
DDG2P v0.1 TBC1D23 Rebecca Foulger gene: TBC1D23 was added
gene: TBC1D23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D23 were set to 28823706; 28823707
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
DDG2P v0.1 TBC1D20 Rebecca Foulger gene: TBC1D20 was added
gene: TBC1D20 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4
DDG2P v0.1 TAZ Rebecca Foulger gene: TAZ was added
gene: TAZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 8630491
Phenotypes for gene: TAZ were set to BARTH SYNDROME 302060
DDG2P v0.1 TANGO2 Rebecca Foulger gene: TANGO2 was added
gene: TANGO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 26805781
Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
DDG2P v0.1 TAF2 Rebecca Foulger gene: TAF2 was added
gene: TAF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF2 were set to 21937992
Phenotypes for gene: TAF2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: TAF2 was set to Other - please provide details in the comments
DDG2P v0.1 TAB2 Rebecca Foulger gene: TAB2 was added
gene: TAB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAB2 were set to 27479907; 20493459
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863
Mode of pathogenicity for gene: TAB2 was set to Other - please provide details in the comments
DDG2P v0.1 SYP Rebecca Foulger gene: SYP was added
gene: SYP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SYP were set to 19377476
Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED 300802
DDG2P v0.1 SYNGAP1 Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621 for gene: SYNGAP1
Publications for gene SYNGAP1 were changed from 23708187 to 23033978; 19196676; 23161826; 21237447; 23141534
DDG2P v0.1 SYNE1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 for gene: SYNE1
DDG2P v0.1 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998
DDG2P v0.1 SYN1 Rebecca Foulger gene: SYN1 was added
gene: SYN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927
DDG2P v0.1 STXBP1 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164 for gene: STXBP1
Publications for gene STXBP1 were changed from to 18469812; 19557857
DDG2P v0.1 STIM1 Rebecca Foulger gene: STIM1 was added
gene: STIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STIM1 were set to 23332920
Phenotypes for gene: STIM1 were set to TUBULAR-AGGREGATE MYOPATHY 160565
Mode of pathogenicity for gene: STIM1 was set to Other - please provide details in the comments
DDG2P v0.1 STIL Rebecca Foulger gene: STIL was added
gene: STIL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIL were set to 19215732
Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 612703
DDG2P v0.1 STAR Rebecca Foulger gene: STAR was added
gene: STAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710
DDG2P v0.1 STAMBP Rebecca Foulger gene: STAMBP was added
gene: STAMBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAMBP were set to 23542699
Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
DDG2P v0.1 ST3GAL3 Rebecca Foulger gene: ST3GAL3 was added
gene: ST3GAL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL3 were set to 21907012; 17120046
Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090
Mode of pathogenicity for gene: ST3GAL3 was set to Other - please provide details in the comments
DDG2P v0.1 SRPX2 Rebecca Foulger gene: SRPX2 was added
gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPX2 were set to 16497722
Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643
Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments
DDG2P v0.1 SRCAP Rebecca Foulger gene: SRCAP was added
gene: SRCAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRCAP were set to 20358590; 22265015
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME 136140
Mode of pathogenicity for gene: SRCAP was set to Other - please provide details in the comments
DDG2P v0.1 SPTLC2 Rebecca Foulger gene: SPTLC2 was added
gene: SPTLC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640
Mode of pathogenicity for gene: SPTLC2 was set to Other - please provide details in the comments
DDG2P v0.1 SPTAN1 Rebecca Foulger gene: SPTAN1 was added
gene: SPTAN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTAN1 were set to 22258530; 20493457
Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477
Mode of pathogenicity for gene: SPTAN1 was set to Other - please provide details in the comments
DDG2P v0.1 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 17717710; 19194956; 17322883; 18067136
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 604360
DDG2P v0.1 SPEG Rebecca Foulger gene: SPEG was added
gene: SPEG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 25087613
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959
DDG2P v0.1 SPATA5 Rebecca Foulger gene: SPATA5 was added
gene: SPATA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 26299366
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577
DDG2P v0.1 SPARC Rebecca Foulger gene: SPARC was added
gene: SPARC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498
Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII 616507
Mode of pathogenicity for gene: SPARC was set to Other - please provide details in the comments
DDG2P v0.1 SPAG1 Rebecca Foulger gene: SPAG1 was added
gene: SPAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG1 were set to 24055112
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
DDG2P v0.1 SOX3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123 for gene: SOX3
Publications for gene SOX3 were changed from to 8826446
DDG2P v0.1 SOX11 Rebecca Foulger gene: SOX11 was added
gene: SOX11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX11 were set to 24886874; 26543203
Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866
Mode of pathogenicity for gene: SOX11 was set to Other - please provide details in the comments
DDG2P v0.1 SOX10 Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 4C 613266 for gene: SOX10
Publications for gene SOX10 were changed from 23643381 to 18348274; 9462749; 10077527; 17999358
DDG2P v0.1 SOX10 Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2E 611584 for gene: SOX10
Publications for gene SOX10 were changed from 19764030; 10482261; 10762540; 11026454; 12447940 to 8911608; 18627047; 19208381; 21965087; 18348267; 20478267; 17999358
DDG2P v0.1 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 19764030; 10482261; 10762540; 11026454; 12447940
Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136
DDG2P v0.1 SOBP Rebecca Foulger gene: SOBP was added
gene: SOBP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SOBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOBP were set to 21035105
Phenotypes for gene: SOBP were set to MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671
DDG2P v0.1 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
DDG2P v0.1 SNRPB Rebecca Foulger gene: SNRPB was added
gene: SNRPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
DDG2P v0.1 SMCHD1 Rebecca Foulger gene: SMCHD1 was added
gene: SMCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMCHD1 were set to 28067909; 28067911
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Mode of pathogenicity for gene: SMCHD1 was set to Other - please provide details in the comments
DDG2P v0.1 SMARCE1 Rebecca Foulger gene: SMARCE1 was added
gene: SMARCE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCE1 were set to 22426308
Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS 135900
Mode of pathogenicity for gene: SMARCE1 was set to Other - please provide details in the comments
DDG2P v0.1 SMARCB1 Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME 135900 for gene: SMARCB1
DDG2P v0.1 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322
DDG2P v0.1 SMARCAL1 Rebecca Foulger gene: SMARCAL1 was added
gene: SMARCAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 11799392; 15523612
Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900
DDG2P v0.1 SMARCA4 Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 for gene: SMARCA4
Publications for gene SMARCA4 were changed from to 20137775
DDG2P v0.1 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900
DDG2P v0.1 SMARCA2 Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME 601358 for gene: SMARCA2
Publications for gene SMARCA2 were changed from 22426308 to 19606471; 22426308; 22366787
DDG2P v0.1 SMARCA2 Rebecca Foulger gene: SMARCA2 was added
gene: SMARCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCA2 were set to 22426308
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS 135900
Mode of pathogenicity for gene: SMARCA2 was set to Other - please provide details in the comments
DDG2P v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 for gene: SMAD4
DDG2P v0.1 SMAD2 Rebecca Foulger gene: SMAD2 was added
gene: SMAD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD2 were set to 23665959
Phenotypes for gene: SMAD2 were set to CONGENITAL HEART DISEASE
DDG2P v0.1 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A6 were set to 20395263; 10528855; 18342287
Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243
DDG2P v0.1 SLC6A9 Rebecca Foulger gene: SLC6A9 was added
gene: SLC6A9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A9 were set to 27773429
Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis
DDG2P v0.1 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE 319029
DDG2P v0.1 SLC6A17 Rebecca Foulger gene: SLC6A17 was added
gene: SLC6A17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A17 were set to 25704603
Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269
Mode of pathogenicity for gene: SLC6A17 was set to Other - please provide details in the comments
DDG2P v0.1 SLC4A4 Rebecca Foulger gene: SLC4A4 was added
gene: SLC4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 10545938; 11274232
Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278
DDG2P v0.1 SLC4A1 Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 for gene: SLC4A1
DDG2P v0.1 SLC4A1 Rebecca Foulger gene: SLC4A1 was added
gene: SLC4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800
Mode of pathogenicity for gene: SLC4A1 was set to Other - please provide details in the comments
DDG2P v0.1 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17446347; 20795774; 18559978; 11807405; 21333572; 11804211
Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION 229050
DDG2P v0.1 SLC39A8 Rebecca Foulger gene: SLC39A8 was added
gene: SLC39A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Mode of pathogenicity for gene: SLC39A8 was set to Other - please provide details in the comments
DDG2P v0.1 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
DDG2P v0.1 SLC31A1 Rebecca Foulger gene: SLC31A1 was added
gene: SLC31A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to 21937992
Phenotypes for gene: SLC31A1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: SLC31A1 was set to Other - please provide details in the comments
DDG2P v0.1 SLC2A10 Rebecca Foulger gene: SLC2A10 was added
gene: SLC2A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A10 were set to 16550171; 17935213; 14569121
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME 208050
DDG2P v0.1 SLC25A4 Rebecca Foulger gene: SLC25A4 was added
gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A4 were set to 27693233
Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A24 Rebecca Foulger gene: SLC25A24 was added
gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A24 were set to 29100094; 29100093
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A22 Rebecca Foulger gene: SLC25A22 was added
gene: SLC25A22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213
Mode of pathogenicity for gene: SLC25A22 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A20 Rebecca Foulger gene: SLC25A20 was added
gene: SLC25A20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 9399886; 12859414; 10384384; 10697964; 9686371
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
DDG2P v0.1 SLC24A1 Rebecca Foulger gene: SLC24A1 was added
gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A1 were set to 20850105
Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830
DDG2P v0.1 SLC22A5 Rebecca Foulger gene: SLC22A5 was added
gene: SLC22A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805
Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
DDG2P v0.1 SIX6 Rebecca Foulger gene: SIX6 was added
gene: SIX6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SIX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX6 were set to 15266624
Phenotypes for gene: SIX6 were set to MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550
Mode of pathogenicity for gene: SIX6 was set to Other - please provide details in the comments
DDG2P v0.1 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIL1 were set to 16282978; 18285827; 17026626; 20111056; 16282977
Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME 248800
DDG2P v0.1 SHH Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 for gene: SHH
Publications for gene SHH were changed from 12503095 to 11471164; 15103725; 12567406
DDG2P v0.1 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH3PXD2B were set to 20137777; 15523657; 7158646
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME 249420
DDG2P v0.1 SGSH Rebecca Foulger gene: SGSH was added
gene: SGSH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A 252900
DDG2P v0.1 SETD5 Rebecca Foulger gene: SETD5 was added
gene: SETD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD5 were set to 24680889
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761
DDG2P v0.1 SELENOI Rebecca Foulger gene: SELENOI was added
gene: SELENOI was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SELENOI was set to
Publications for gene: SELENOI were set to 28052917; 29500230
Phenotypes for gene: SELENOI were set to EPT1-related complex progressive hereditary spastic paraplegia
DDG2P v0.1 SCYL1 Rebecca Foulger gene: SCYL1 was added
gene: SCYL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
DDG2P v0.1 SCO2 Rebecca Foulger gene: SCO2 was added
gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377
DDG2P v0.1 SCN8A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 for gene: SCN8A
Publications for gene SCN8A were changed from 16236810 to 22365152
DDG2P v0.1 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN8A were set to 16236810
Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306
DDG2P v0.1 SCN4A Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 for gene: SCN4A
Publications for gene SCN4A were changed from 1659948; 15596759; 1659668 to 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483
DDG2P v0.1 SCN4A Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 for gene: SCN4A
Publications for gene SCN4A were changed from 16890191; 10851391; 10599760; 10944223; 11591859 to 1659948; 15596759; 1659668
DDG2P v0.1 SCN4A Rebecca Foulger gene: SCN4A was added
gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859
Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345
Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments
DDG2P v0.1 SCARF2 Rebecca Foulger gene: SCARF2 was added
gene: SCARF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARF2 were set to 21108395
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME 600920
DDG2P v0.1 SCAPER Rebecca Foulger gene: SCAPER was added
gene: SCAPER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 21937992
Phenotypes for gene: SCAPER were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME 239588
DDG2P v0.1 SALL4 Rebecca Foulger gene: SALL4 was added
gene: SALL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME 217001
DDG2P v0.1 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to 10655055
Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550
DDG2P v0.1 RUBCN Rebecca Foulger gene: RUBCN was added
gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY
Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments
DDG2P v0.1 RTN4IP1 Rebecca Foulger gene: RTN4IP1 was added
gene: RTN4IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN4IP1 were set to 26593267
Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
DDG2P v0.1 RSPH3 Rebecca Foulger gene: RSPH3 was added
gene: RSPH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPH3 were set to 26073779
Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
DDG2P v0.1 RSPH1 Rebecca Foulger gene: RSPH1 was added
gene: RSPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPH1 were set to 23993197
Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
DDG2P v0.1 RPS23 Rebecca Foulger gene: RPS23 was added
gene: RPS23 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS23 were set to 28257692
Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features
Mode of pathogenicity for gene: RPS23 was set to Other - please provide details in the comments
DDG2P v0.1 ROR2 Rebecca Foulger gene: ROR2 was added
gene: ROR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ROR2 were set to 10932186; 19640924; 15952209; 18831060; 10932187
Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR 268310
DDG2P v0.1 RNU4ATAC Rebecca Foulger gene: RNU4ATAC was added
gene: RNU4ATAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 17666473; 21474761; 22581640; 21474760
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
Mode of pathogenicity for gene: RNU4ATAC was set to Other - please provide details in the comments
DDG2P v0.1 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 16845400
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 610329
DDG2P v0.1 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 16845400
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 610181
DDG2P v0.1 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 15870678
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 610333
DDG2P v0.1 RMRP Rebecca Foulger gene: RMRP was added
gene: RMRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA 250250
DDG2P v0.1 RIN2 Rebecca Foulger gene: RIN2 was added
gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIN2 were set to 19631308
Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
DDG2P v0.1 RGS7 Rebecca Foulger gene: RGS7 was added
gene: RGS7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RGS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS7 were set to 21937992
Phenotypes for gene: RGS7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 RFX6 Rebecca Foulger gene: RFX6 was added
gene: RFX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 18512226; 20148032; 19887127; 15592663
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME 601346
DDG2P v0.1 RETREG1 Rebecca Foulger gene: RETREG1 was added
gene: RETREG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196
Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115
DDG2P v0.1 RBM10 Rebecca Foulger gene: RBM10 was added
gene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBM10 were set to 20451169; 5410571
Phenotypes for gene: RBM10 were set to TARP SYNDROME 311900
DDG2P v0.1 RASA1 Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 for gene: RASA1
Publications for gene RASA1 were changed from 14639529 to 18363760; 14639529
DDG2P v0.1 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 14639529
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME 608355
DDG2P v0.1 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922
DDG2P v0.1 RARB Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB
DDG2P v0.1 RARB Rebecca Foulger gene: RARB was added
gene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to 24075189
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
DDG2P v0.1 RALGDS Rebecca Foulger gene: RALGDS was added
gene: RALGDS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RALGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGDS were set to 21937992
Phenotypes for gene: RALGDS were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: RALGDS was set to Other - please provide details in the comments
DDG2P v0.1 RABL6 Rebecca Foulger gene: RABL6 was added
gene: RABL6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RABL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABL6 were set to 21937992
Phenotypes for gene: RABL6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: RABL6 was set to Other - please provide details in the comments
DDG2P v0.1 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP2 were set to 16532399
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME 212720
DDG2P v0.1 RAB3GAP1 Rebecca Foulger gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 600118
DDG2P v0.1 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RAB39B were set to 11050621; 20159109; 25434005
Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271
DDG2P v0.1 RAB18 Rebecca Foulger gene: RAB18 was added
gene: RAB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB18 were set to 21473985
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 614222
DDG2P v0.1 QARS Rebecca Foulger gene: QARS was added
gene: QARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QARS were set to 24656866
Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760
Mode of pathogenicity for gene: QARS was set to Other - please provide details in the comments
DDG2P v0.1 PYROXD1 Rebecca Foulger gene: PYROXD1 was added
gene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833
Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
DDG2P v0.1 PXDN Rebecca Foulger gene: PXDN was added
gene: PXDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PXDN were set to 21907015
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
DDG2P v0.1 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
DDG2P v0.1 PTH1R Rebecca Foulger gene: PTH1R was added
gene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 19061984
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350
DDG2P v0.1 PTH Rebecca Foulger gene: PTH was added
gene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800
Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200
DDG2P v0.1 PTF1A Rebecca Foulger gene: PTF1A was added
gene: PTF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 10507728; 21749365; 15543146
Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069
DDG2P v0.1 PTDSS1 Rebecca Foulger gene: PTDSS1 was added
gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTDSS1 were set to 24241535
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050
Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments
DDG2P v0.1 PRSS12 Rebecca Foulger gene: PRSS12 was added
gene: PRSS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRSS12 were set to 12459588
Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500
DDG2P v0.1 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRT2 were set to 21937992
Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 PRPS1 Rebecca Foulger Added phenotypes ARTS SYNDROME 301835 for gene: PRPS1
Publications for gene PRPS1 were changed from 6243137; 171280; 7593598; 2423135 to 22246954; 17701896; 8498830
DDG2P v0.1 PRPS1 Rebecca Foulger gene: PRPS1 was added
gene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PRPS1 were set to 17701900
Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070
DDG2P v0.1 PROP1 Rebecca Foulger gene: PROP1 was added
gene: PROP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600
DDG2P v0.1 PRMT9 Rebecca Foulger gene: PRMT9 was added
gene: PRMT9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT9 were set to 21937992
Phenotypes for gene: PRMT9 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: PRMT9 was set to Other - please provide details in the comments
DDG2P v0.1 PRMT7 Rebecca Foulger gene: PRMT7 was added
gene: PRMT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT7 were set to 26437029
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
DDG2P v0.1 PRKD1 Rebecca Foulger gene: PRKD1 was added
gene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Mode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments
DDG2P v0.1 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1A were set to 22464252; 21651393; 22464250
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS 101800
Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments
DDG2P v0.1 PRDM6 Rebecca Foulger gene: PRDM6 was added
gene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRDM6 were set to 27181681
Phenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus.
Mode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments
DDG2P v0.1 PRDM12 Rebecca Foulger gene: PRDM12 was added
gene: PRDM12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26005867
Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488
DDG2P v0.1 PPP1CB Rebecca Foulger gene: PPP1CB was added
gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments
DDG2P v0.1 PPA2 Rebecca Foulger gene: PPA2 was added
gene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598; 27523597
Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger
Mode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments
DDG2P v0.1 POU1F1 Rebecca Foulger gene: POU1F1 was added
gene: POU1F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POU1F1 were set to 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038
DDG2P v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150 for gene: POMT2
Publications for gene POMT2 were changed from 17923109 to 19138766; 17878207; 16701995; 15894594
DDG2P v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158 for gene: POMT2
Publications for gene POMT2 were changed from 19299310; 19138766; 17634419 to 17923109
DDG2P v0.1 POMT2 Rebecca Foulger gene: POMT2 was added
gene: POMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 19299310; 19138766; 17634419
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156
DDG2P v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308 for gene: POMT1
Publications for gene POMT1 were changed from 16717220; 11053679 to 22549409; 14678799
DDG2P v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155 for gene: POMT1
Publications for gene POMT1 were changed from 15037715; 11320179; 17878207; 12369018; 19299310 to 16717220; 11053679
DDG2P v0.1 POMT1 Rebecca Foulger gene: POMT1 was added
gene: POMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 15037715; 11320179; 17878207; 12369018; 19299310
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670
DDG2P v0.1 POMP Rebecca Foulger gene: POMP was added
gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 20226437
Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952
Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments
DDG2P v0.1 POMGNT2 Rebecca Foulger gene: POMGNT2 was added
gene: POMGNT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 22958903
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME 614830
DDG2P v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 for gene: POMGNT1
Publications for gene POMGNT1 were changed from 17878207; 12588800; 15236414; 11709191 to 18195152; 22419172
DDG2P v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 for gene: POMGNT1
Publications for gene POMGNT1 were changed from 19299310; 19067344 to 17878207; 12588800; 15236414; 11709191
DDG2P v0.1 POMGNT1 Rebecca Foulger gene: POMGNT1 was added
gene: POMGNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 19299310; 19067344
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151
DDG2P v0.1 POLR3B Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: POLR3B
Publications for gene POLR3B were changed from to 21937992
DDG2P v0.1 POLD1 Rebecca Foulger gene: POLD1 was added
gene: POLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Mode of pathogenicity for gene: POLD1 was set to Other - please provide details in the comments
DDG2P v0.1 POC1A Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: POC1A
Publications for gene POC1A were changed from 22840364; 26336158; 22440536; 22840363 to 22840364; 22440536
DDG2P v0.1 PNPT1 Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1
DDG2P v0.1 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 20118933
Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402
DDG2P v0.1 PLXND1 Rebecca Foulger Added phenotypes TRUNCUS ARTERIOSIS for gene: PLXND1
Publications for gene PLXND1 were changed from to 24254849
DDG2P v0.1 PLP1 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 for gene: PLP1
Publications for gene PLP1 were changed from 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 to 17438221; 9489796; 8320699; 8956049; 14452137
DDG2P v0.1 PLEC Rebecca Foulger gene: PLEC was added
gene: PLEC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723
DDG2P v0.1 PLCB4 Rebecca Foulger gene: PLCB4 was added
gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME 602483
Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments
DDG2P v0.1 PLCB1 Rebecca Foulger gene: PLCB1 was added
gene: PLCB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCB1 were set to 20833646
Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722
DDG2P v0.1 PITX3 Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: PITX3
DDG2P v0.1 PITX3 Rebecca Foulger gene: PITX3 was added
gene: PITX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITX3 were set to 15286169
Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4 610623
DDG2P v0.1 PITX1 Rebecca Foulger gene: PITX1 was added
gene: PITX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
DDG2P v0.1 PIK3CA Rebecca Foulger Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501 for gene: PIK3CA
Publications for gene PIK3CA were changed from 22658544 to 22729224
DDG2P v0.1 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3CA were set to 22658544
Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918
Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments
DDG2P v0.1 PIH1D3 Rebecca Foulger gene: PIH1D3 was added
gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIH1D3 were set to 28041644
Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
DDG2P v0.1 PIGW Rebecca Foulger gene: PIGW was added
gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 24367057
Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025
Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments
DDG2P v0.1 PIGV Rebecca Foulger gene: PIGV was added
gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 17351347; 20802478
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300
Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments
DDG2P v0.1 PIGQ Rebecca Foulger gene: PIGQ was added
gene: PIGQ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 24463883
Phenotypes for gene: PIGQ were set to SEVERE EARLY-ONSET EPILEPSY
DDG2P v0.1 PIGO Rebecca Foulger gene: PIGO was added
gene: PIGO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGO were set to 22683086
Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749
DDG2P v0.1 PIEZO2 Rebecca Foulger gene: PIEZO2 was added
gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO2 were set to 24726473
Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300
DDG2P v0.1 PHF8 Rebecca Foulger gene: PHF8 was added
gene: PHF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHF8 were set to 10398231; 17594395; 16199551; 17661819
Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263
DDG2P v0.1 PHC1 Rebecca Foulger gene: PHC1 was added
gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHC1 were set to 23418308
Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414
Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments
DDG2P v0.1 PGAP3 Rebecca Foulger gene: PGAP3 was added
gene: PGAP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP3 were set to 24439110
Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716
DDG2P v0.1 PECR Rebecca Foulger gene: PECR was added
gene: PECR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PECR were set to 21937992
Phenotypes for gene: PECR were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: PECR was set to Other - please provide details in the comments
DDG2P v0.1 PDSS2 Rebecca Foulger gene: PDSS2 was added
gene: PDSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS2 were set to 17186472
Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652
DDG2P v0.1 PDSS1 Rebecca Foulger gene: PDSS1 was added
gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 17332895
Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651
Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments
DDG2P v0.1 PCNT Rebecca Foulger gene: PCNT was added
gene: PCNT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 18174396; 15372530; 19839044
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720
DDG2P v0.1 PCDH19 Rebecca Foulger gene: PCDH19 was added
gene: PCDH19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCDH19 was set to x-linked over-dominance
Publications for gene: PCDH19 were set to 19214208; 5116697; 18469813; 19752159
Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088
DDG2P v0.1 PC Rebecca Foulger gene: PC was added
gene: PC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PC were set to 12112657; 9585612; 9585002; 19306334
Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY 266150
DDG2P v0.1 PAX6 Rebecca Foulger Added phenotypes ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 for gene: PAX6
Publications for gene PAX6 were changed from 12721955 to 17595013; 17148041
DDG2P v0.1 PAX6 Rebecca Foulger gene: PAX6 was added
gene: PAX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX6 were set to 7668281
Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY 148190
DDG2P v0.1 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX3 were set to 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267
Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 193500
DDG2P v0.1 PARP1 Rebecca Foulger gene: PARP1 was added
gene: PARP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PARP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARP1 were set to 21937992
Phenotypes for gene: PARP1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: PARP1 was set to Other - please provide details in the comments
DDG2P v0.1 PARN Rebecca Foulger gene: PARN was added
gene: PARN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARN were set to 25893599
Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6
DDG2P v0.1 PAK3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 300558 for gene: PAK3
Publications for gene PAK3 were changed from 24556213 to 17853471; 9332663; 8826460; 18523455; 12884430
DDG2P v0.1 P4HB Rebecca Foulger gene: P4HB was added
gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: P4HB were set to 25683117
Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240
Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments
DDG2P v0.1 OTOGL Rebecca Foulger gene: OTOGL was added
gene: OTOGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTOGL were set to 23122586
Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS 614944
DDG2P v0.1 OTC Rebecca Foulger gene: OTC was added
gene: OTC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTC were set to 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064
Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250
DDG2P v0.1 OSGEP Rebecca Foulger gene: OSGEP was added
gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to 28805828
Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly
Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments
DDG2P v0.1 OPHN1 Rebecca Foulger gene: OPHN1 was added
gene: OPHN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OPHN1 were set to 12805098; 12807966; 16158428; 20528889; 9582072
Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486
DDG2P v0.1 NYX Rebecca Foulger gene: NYX was added
gene: NYX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NYX were set to 11062471; 16670814; 11062472
Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500
DDG2P v0.1 NUP107 Rebecca Foulger gene: NUP107 was added
gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP107 were set to 26411495
Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
DDG2P v0.1 NR2F2 Rebecca Foulger gene: NR2F2 was added
gene: NR2F2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR2F2 were set to 24702954
Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779
DDG2P v0.1 NPR2 Rebecca Foulger gene: NPR2 was added
gene: NPR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875
DDG2P v0.1 NOTCH1 Rebecca Foulger gene: NOTCH1 was added
gene: NOTCH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 16025100
Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730
DDG2P v0.1 NOG Rebecca Foulger Added phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 for gene: NOG
Publications for gene NOG were changed from 20503332; 11846737; 16532400; 3667255; 15770128 to 11545688; 4019538
DDG2P v0.1 NKX2-5 Rebecca Foulger gene: NKX2-5 was added
gene: NKX2-5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900
DDG2P v0.1 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA 118700
DDG2P v0.1 NHS Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED 302200 for gene: NHS
Publications for gene NHS were changed from 15623749; 458526; 14564667; 2246772 to 19414485; 11836358
DDG2P v0.1 NFIX Rebecca Foulger Added phenotypes MARSHALL-SMITH SYNDROME 602535 for gene: NFIX
Publications for gene NFIX were changed from 22301465; 20673863 to 20673863
DDG2P v0.1 NEDD4L Rebecca Foulger gene: NEDD4L was added
gene: NEDD4L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEDD4L were set to 23934111; 28515470; 27694961
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Mode of pathogenicity for gene: NEDD4L was set to Other - please provide details in the comments
DDG2P v0.1 NDUFB11 Rebecca Foulger gene: NDUFB11 was added
gene: NDUFB11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NDUFB11 were set to 25772934
Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
DDG2P v0.1 NDST1 Rebecca Foulger gene: NDST1 was added
gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDST1 were set to 21937992
Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments
DDG2P v0.1 NAXE Rebecca Foulger gene: NAXE was added
gene: NAXE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27616477
Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood
DDG2P v0.1 NALCN Rebecca Foulger Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 for gene: NALCN
Publications for gene NALCN were changed from 25683120 to 23749988
DDG2P v0.1 NAGLU Rebecca Foulger gene: NAGLU was added
gene: NAGLU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 12202988; 11068184; 10094189; 9832037; 8650226; 21937992
Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B 252920
DDG2P v0.1 NACC1 Rebecca Foulger gene: NACC1 was added
gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NACC1 were set to 28132692
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments
DDG2P v0.1 NAA15 Rebecca Foulger gene: NAA15 was added
gene: NAA15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NAA15 were set to 28191889; 23665959
Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
DDG2P v0.1 MYT1 Rebecca Foulger gene: MYT1 was added
gene: MYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 27358179
Phenotypes for gene: MYT1 were set to OAVS/Goldenhar syndrome
DDG2P v0.1 MYOC Rebecca Foulger gene: MYOC was added
gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
DDG2P v0.1 MYH8 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8
DDG2P v0.1 MYH8 Rebecca Foulger gene: MYH8 was added
gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837
DDG2P v0.1 MYH6 Rebecca Foulger Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 for gene: MYH6
DDG2P v0.1 MYH6 Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 for gene: MYH6
DDG2P v0.1 MYH3 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 for gene: MYH3
Publications for gene MYH3 were changed from 16642020; 18695058 to 16642020
DDG2P v0.1 MYH3 Rebecca Foulger gene: MYH3 was added
gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH3 were set to 16642020; 18695058
Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680
Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments
DDG2P v0.1 MTO1 Rebecca Foulger gene: MTO1 was added
gene: MTO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTO1 were set to 22608499
Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702
DDG2P v0.1 MTMR14 Rebecca Foulger gene: MTMR14 was added
gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MTMR14 was set to
Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150
Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments
DDG2P v0.1 MTM1 Rebecca Foulger gene: MTM1 was added
gene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787
Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400
DDG2P v0.1 MSX2 Rebecca Foulger gene: MSX2 was added
gene: MSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MSX2 were set to 14571277
Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550
DDG2P v0.1 MNX1 Rebecca Foulger gene: MNX1 was added
gene: MNX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MNX1 were set to 9843207; 15216552; 10631160; 16906559; 7550324
Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME 176450
DDG2P v0.1 MLYCD Rebecca Foulger gene: MLYCD was added
gene: MLYCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
DDG2P v0.1 MKS1 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 209900 for gene: MKS1
DDG2P v0.1 MKKS Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 for gene: MKKS
DDG2P v0.1 MITF Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2A 193510 for gene: MITF
Publications for gene MITF were changed from 8589691; 10851256 to 8490648; 8589691; 7874167; 9856573
DDG2P v0.1 MITF Rebecca Foulger gene: MITF was added
gene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MITF were set to 9158138
Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470
DDG2P v0.1 MIR184 Rebecca Foulger gene: MIR184 was added
gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIR184 were set to 21996275
Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT
Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments
DDG2P v0.1 MFSD2A Rebecca Foulger gene: MFSD2A was added
gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD2A were set to 26005865
Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486
Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments
DDG2P v0.1 MEGF8 Rebecca Foulger gene: MEGF8 was added
gene: MEGF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME 201000
DDG2P v0.1 MEGF10 Rebecca Foulger gene: MEGF10 was added
gene: MEGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF10 were set to 22101682; 17236770; 22371254
Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399
DDG2P v0.1 MEF2C Rebecca Foulger gene: MEF2C was added
gene: MEF2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MEF2C were set to 20513142; 23001426; 19592390
Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443
DDG2P v0.1 MED23 Rebecca Foulger gene: MED23 was added
gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249
Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments
DDG2P v0.1 MECP2 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 for gene: MECP2
Publications for gene MECP2 were changed from 15689435 to 9377804; 12615169; 16966553; 10232754; 11007980; 11807877
DDG2P v0.1 MECP2 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 for gene: MECP2
Publications for gene MECP2 were changed from 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 to 15689435
DDG2P v0.1 MECOM Rebecca Foulger gene: MECOM was added
gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MECOM were set to 26581901
Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments
DDG2P v0.1 MDH2 Rebecca Foulger gene: MDH2 was added
gene: MDH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH2 were set to 27989324
Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy
DDG2P v0.1 MCPH1 Rebecca Foulger gene: MCPH1 was added
gene: MCPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCPH1 were set to 12046007; 7693575; 11857108; 16311745; 20978018
Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 251200
DDG2P v0.1 MCCC2 Rebecca Foulger gene: MCCC2 was added
gene: MCCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210
DDG2P v0.1 MCCC1 Rebecca Foulger gene: MCCC1 was added
gene: MCCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200
DDG2P v0.1 MAP3K7 Rebecca Foulger gene: MAP3K7 was added
gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 27426734
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome
Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments
DDG2P v0.1 MAP2K2 Rebecca Foulger gene: MAP2K2 was added
gene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150
Mode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments
DDG2P v0.1 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150
Mode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments
DDG2P v0.1 MAN1B1 Rebecca Foulger gene: MAN1B1 was added
gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992
Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments
DDG2P v0.1 MAGT1 Rebecca Foulger gene: MAGT1 was added
gene: MAGT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 18455129
Phenotypes for gene: MAGT1 were set to MENTAL RETARDATION X-LINKED TYPE 95 300716
DDG2P v0.1 MAGI2 Rebecca Foulger gene: MAGI2 was added
gene: MAGI2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAGI2 were set to 18565486
Phenotypes for gene: MAGI2 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 MAGEL2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2
Publications for gene MAGEL2 were changed from 27195816; 24076603 to 26365340
DDG2P v0.1 MAFB Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB
Publications for gene MAFB were changed from 22387013 to 27181683
DDG2P v0.1 MAFB Rebecca Foulger gene: MAFB was added
gene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAFB were set to 22387013
Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300
DDG2P v0.1 MAF Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 610202 for gene: MAF
DDG2P v0.1 MAF Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 for gene: MAF
Publications for gene MAF were changed from to 16470690; 11772997
DDG2P v0.1 MAF Rebecca Foulger gene: MAF was added
gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments
DDG2P v0.1 LTBP2 Rebecca Foulger Added phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 for gene: LTBP2
Publications for gene LTBP2 were changed from 20617341; 22025892; 20179738 to 19656777; 19361779
DDG2P v0.1 LRRC6 Rebecca Foulger gene: LRRC6 was added
gene: LRRC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC6 were set to 23122589
Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA 614935
DDG2P v0.1 LRP2 Rebecca Foulger Added phenotypes DONNAI-BARROW SYNDROME 222448 for gene: LRP2
DDG2P v0.1 LRIT3 Rebecca Foulger gene: LRIT3 was added
gene: LRIT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIT3 were set to 23246293
Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE 610140 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger gene: LMNA was added
gene: LMNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A 115200
DDG2P v0.1 LIPT1 Rebecca Foulger gene: LIPT1 was added
gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811
Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments
DDG2P v0.1 LIPN Rebecca Foulger gene: LIPN was added
gene: LIPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPN were set to 21439540
Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 613943
DDG2P v0.1 LINS1 Rebecca Foulger gene: LINS1 was added
gene: LINS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINS1 were set to 21937992
Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 LHX4 Rebecca Foulger gene: LHX4 was added
gene: LHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135
DDG2P v0.1 LHX3 Rebecca Foulger gene: LHX3 was added
gene: LHX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHX3 were set to 18407919; 17327381; 10835633
Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750
DDG2P v0.1 LGI4 Rebecca Foulger gene: LGI4 was added
gene: LGI4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI4 were set to 28318499
Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA
DDG2P v0.1 LGI1 Rebecca Foulger gene: LGI1 was added
gene: LGI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LGI1 were set to AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512
DDG2P v0.1 LDB3 Rebecca Foulger Added phenotypes MYOPATHY MYOFIBRILLAR TYPE 4 609452 for gene: LDB3
DDG2P v0.1 LDB3 Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1C 601493 for gene: LDB3
DDG2P v0.1 LDB3 Rebecca Foulger gene: LDB3 was added
gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493
Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments
DDG2P v0.1 LARS2 Rebecca Foulger gene: LARS2 was added
gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 23541342
Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME
Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments
DDG2P v0.1 LARP7 Rebecca Foulger gene: LARP7 was added
gene: LARP7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARP7 were set to 26374271; 21937992; 26607181
Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME 615071
DDG2P v0.1 LARGE1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 for gene: LARGE1
Publications for gene LARGE1 were changed from 19299310; 19067344; 17436019 to 12966029; 21248746
DDG2P v0.1 LARGE1 Rebecca Foulger gene: LARGE1 was added
gene: LARGE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to 19299310; 19067344; 17436019
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154
DDG2P v0.1 LAMB1 Rebecca Foulger gene: LAMB1 was added
gene: LAMB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191
DDG2P v0.1 LAMA2 Rebecca Foulger gene: LAMA2 was added
gene: LAMA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA2 were set to 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858
Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY 607855
DDG2P v0.1 LAMA1 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: LAMA1
Publications for gene LAMA1 were changed from 25105227 to 21937992
DDG2P v0.1 LAMA1 Rebecca Foulger gene: LAMA1 was added
gene: LAMA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 25105227
Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
DDG2P v0.1 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 19911013; 15385440
Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA 236792
DDG2P v0.1 L1CAM Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 for gene: L1CAM
Publications for gene L1CAM were changed from 26916325 to 7920659; 7920660; 3460961
DDG2P v0.1 L1CAM Rebecca Foulger Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 for gene: L1CAM
Publications for gene L1CAM were changed from 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550 to 26916325
DDG2P v0.1 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to 7920659; 7920660; 3460961
Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350
DDG2P v0.1 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME 115150
Mode of pathogenicity for gene: KRAS was set to Other - please provide details in the comments
DDG2P v0.1 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417; 27839873
Phenotypes for gene: KMT2B were set to Complex early-onset dystonia
DDG2P v0.1 KLHL7 Rebecca Foulger gene: KLHL7 was added
gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL7 were set to 27392078
Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments
DDG2P v0.1 KLF8 Rebecca Foulger gene: KLF8 was added
gene: KLF8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KLF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF8 were set to 22495311
Phenotypes for gene: KLF8 were set to NONSYNDROMIC MENTAL RETARDATION
DDG2P v0.1 KITLG Rebecca Foulger gene: KITLG was added
gene: KITLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KITLG were set to 26522471
Phenotypes for gene: KITLG were set to WAARDENBURG SYNDROME TYPE 2
Mode of pathogenicity for gene: KITLG was set to Other - please provide details in the comments
DDG2P v0.1 KIRREL3 Rebecca Foulger gene: KIRREL3 was added
gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIRREL3 were set to 19012874
Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581
Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments
DDG2P v0.1 KIF7 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: KIF7
Publications for gene KIF7 were changed from to 21937992
DDG2P v0.1 KIF1A Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A
DDG2P v0.1 KIF1A Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A
Publications for gene KIF1A were changed from 21376300 to 21820098
DDG2P v0.1 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 21376300
Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255
DDG2P v0.1 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIDINS220 were set to 27005418
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity.
DDG2P v0.1 KDM6B Rebecca Foulger gene: KDM6B was added
gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDM6B were set to 21937992
Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments
DDG2P v0.1 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KDM5C were set to 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534
DDG2P v0.1 KDM5A Rebecca Foulger gene: KDM5A was added
gene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDM5A were set to 21937992
Phenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments
DDG2P v0.1 KCTD1 Rebecca Foulger gene: KCTD1 was added
gene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCTD1 were set to 23541344
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Mode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNT1 Rebecca Foulger gene: KCNT1 was added
gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNT1 were set to 23086397
Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNQ2 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 for gene: KCNQ2
Publications for gene KCNQ2 were changed from 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 to 22275249; 12742592
DDG2P v0.1 KCNMA1 Rebecca Foulger gene: KCNMA1 was added
gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNMA1 were set to 15937479
Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446
Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNK9 Rebecca Foulger gene: KCNK9 was added
gene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292
Mode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments
DDG2P v0.1 KCNJ10 Rebecca Foulger gene: KCNJ10 was added
gene: KCNJ10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 20651251; 19289823; 19420365; 21849804
Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780
DDG2P v0.1 KCNH1 Rebecca Foulger gene: KCNH1 was added
gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH1 were set to 25420144
Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816
Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNC3 Rebecca Foulger gene: KCNC3 was added
gene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259
Mode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments
DDG2P v0.1 KCNB1 Rebecca Foulger gene: KCNB1 was added
gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNB1 were set to 25164438
Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056
Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments
DDG2P v0.1 KAT6B Rebecca Foulger Added phenotypes GENITOPATELLAR SYNDROME 606170 for gene: KAT6B
Publications for gene KAT6B were changed from to 12210330; 12949978; 16761293; 12210329; 22265014
DDG2P v0.1 KAT6B Rebecca Foulger gene: KAT6B was added
gene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
DDG2P v0.1 KAT6A Rebecca Foulger gene: KAT6A was added
gene: KAT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT6A were set to 25728775; 30245513
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268
DDG2P v0.1 KARS Rebecca Foulger Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 613916 for gene: KARS
Publications for gene KARS were changed from 20920668 to 23768514
DDG2P v0.1 KARS Rebecca Foulger gene: KARS was added
gene: KARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 20920668
Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641
DDG2P v0.1 JAM3 Rebecca Foulger gene: JAM3 was added
gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM3 were set to 21109224; 23255084
Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730
DDG2P v0.1 ITPR1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 for gene: ITPR1
Publications for gene ITPR1 were changed from 17932120 to 22986007; 27062503
DDG2P v0.1 ITPR1 Rebecca Foulger gene: ITPR1 was added
gene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ITPR1 were set to 17932120
Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658
DDG2P v0.1 ITGA7 Rebecca Foulger gene: ITGA7 was added
gene: ITGA7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA7 were set to 9590299
Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY 607855
DDG2P v0.1 ISPD Rebecca Foulger gene: ISPD was added
gene: ISPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to 23217329; 22522420; 22522421; 7604843; 9492098
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME 614643
DDG2P v0.1 IRX5 Rebecca Foulger gene: IRX5 was added
gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174
Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments
DDG2P v0.1 IQSEC2 Rebecca Foulger gene: IQSEC2 was added
gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311
Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530
Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments
DDG2P v0.1 INPP5K Rebecca Foulger gene: INPP5K was added
gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5K were set to 28190459; 28190456
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability
Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments
DDG2P v0.1 INPP5E Rebecca Foulger gene: INPP5E was added
gene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 19668215
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156
DDG2P v0.1 INPP4A Rebecca Foulger gene: INPP4A was added
gene: INPP4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 21937992
Phenotypes for gene: INPP4A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 IL1RAPL1 Rebecca Foulger gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143
DDG2P v0.1 IGSF1 Rebecca Foulger gene: IGSF1 was added
gene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IGSF1 were set to 23143598
Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888
DDG2P v0.1 IGHMBP2 Rebecca Foulger gene: IGHMBP2 was added
gene: IGHMBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 11528396; 15290238
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320
DDG2P v0.1 IGFBP7 Rebecca Foulger gene: IGFBP7 was added
gene: IGFBP7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGFBP7 were set to 12441727
Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224
DDG2P v0.1 IGBP1 Rebecca Foulger gene: IGBP1 was added
gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472
Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments
DDG2P v0.1 IFIH1 Rebecca Foulger gene: IFIH1 was added
gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 24995871
Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846
Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments
DDG2P v0.1 IDUA Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 for gene: IDUA
Publications for gene IDUA were changed from 10735634; 10466419; 8664897; 7550232; 9391892 to 8328452; 6821579; 7951228; 8664897; 10735634
DDG2P v0.1 IDUA Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 for gene: IDUA
Publications for gene IDUA were changed from 7550232; 4221470 to 10735634; 10466419; 8664897; 7550232; 9391892
DDG2P v0.1 IDUA Rebecca Foulger gene: IDUA was added
gene: IDUA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 7550232; 4221470
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S 607016
DDG2P v0.1 IDS Rebecca Foulger gene: IDS was added
gene: IDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2 309900
DDG2P v0.1 IARS2 Rebecca Foulger gene: IARS2 was added
gene: IARS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 25130867
Phenotypes for gene: IARS2 were set to CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007
DDG2P v0.1 IARS Rebecca Foulger gene: IARS was added
gene: IARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735
Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
DDG2P v0.1 HYDIN Rebecca Foulger gene: HYDIN was added
gene: HYDIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYDIN were set to 14985390; 23022101
Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 608647
DDG2P v0.1 HYAL1 Rebecca Foulger gene: HYAL1 was added
gene: HYAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL1 were set to 8793927
Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 601492
DDG2P v0.1 HUWE1 Rebecca Foulger gene: HUWE1 was added
gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HUWE1 were set to 7943042; 18252223
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706
Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments
DDG2P v0.1 HTRA2 Rebecca Foulger gene: HTRA2 was added
gene: HTRA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27696117
Phenotypes for gene: HTRA2 were set to Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
DDG2P v0.1 HSPG2 Rebecca Foulger gene: HSPG2 was added
gene: HSPG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPG2 were set to 11101850; 11941538
Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME 255800
DDG2P v0.1 HSF4 Rebecca Foulger Added phenotypes CATARACT ZONULAR HSF4-RELATED 116800 for gene: HSF4
DDG2P v0.1 HSF4 Rebecca Foulger gene: HSF4 was added
gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSF4 were set to 12089525
Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800
Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments
DDG2P v0.1 HSD17B10 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220 for gene: HSD17B10
Publications for gene HSD17B10 were changed from 16148061; 12555940; 12696021 to 10521307
DDG2P v0.1 HR Rebecca Foulger Added phenotypes ATRICHIA WITH PAPULAR LESIONS 209500 for gene: HR
Publications for gene HR were changed from 19897589; 10777357; 17680008 to 9856480; 10469319; 10205263; 12271294; 10051399
DDG2P v0.1 HPGD Rebecca Foulger gene: HPGD was added
gene: HPGD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY 259100
DDG2P v0.1 HOXB1 Rebecca Foulger gene: HOXB1 was added
gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXB1 were set to 22770981
Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744
Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments
DDG2P v0.1 HOXA11 Rebecca Foulger gene: HOXA11 was added
gene: HOXA11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXA11 were set to 26581901
Phenotypes for gene: HOXA11 were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
DDG2P v0.1 HMX1 Rebecca Foulger gene: HMX1 was added
gene: HMX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMX1 were set to 18423520
Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME 612109
DDG2P v0.1 HMGCS2 Rebecca Foulger gene: HMGCS2 was added
gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379
Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911
Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments
DDG2P v0.1 HMGCL Rebecca Foulger gene: HMGCL was added
gene: HMGCL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 9463337; 8617516; 11129331
Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450
DDG2P v0.1 HLCS Rebecca Foulger gene: HLCS was added
gene: HLCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018
DDG2P v0.1 HIST3H3 Rebecca Foulger gene: HIST3H3 was added
gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIST3H3 were set to 21937992
Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments
DDG2P v0.1 HIST1H4B Rebecca Foulger gene: HIST1H4B was added
gene: HIST1H4B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HIST1H4B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIST1H4B were set to 21937992
Phenotypes for gene: HIST1H4B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 HGSNAT Rebecca Foulger gene: HGSNAT was added
gene: HGSNAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 18024218; 18518886; 16960811; 20825431; 17033958
Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C 252930
DDG2P v0.1 HESX1 Rebecca Foulger Added phenotypes HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 for gene: HESX1
DDG2P v0.1 HDAC4 Rebecca Foulger gene: HDAC4 was added
gene: HDAC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC4 were set to 20691407
Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430
DDG2P v0.1 HCN1 Rebecca Foulger gene: HCN1 was added
gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HCN1 were set to 24747641
Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871
Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments
DDG2P v0.1 HCFC1 Rebecca Foulger gene: HCFC1 was added
gene: HCFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to 1870093; 23000143
Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 309541
DDG2P v0.1 HARS Rebecca Foulger gene: HARS was added
gene: HARS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS were set to 22279524
Phenotypes for gene: HARS were set to USHER SYNDROME 614504
Mode of pathogenicity for gene: HARS was set to Other - please provide details in the comments
DDG2P v0.1 GZF1 Rebecca Foulger gene: GZF1 was added
gene: GZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863
Phenotypes for gene: GZF1 were set to LARSEN SYNDROME
DDG2P v0.1 GUSB Rebecca Foulger gene: GUSB was added
gene: GUSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7 253220
DDG2P v0.1 GUCY2C Rebecca Foulger Added phenotypes FAMILIAL DIARRHEA DIARRHEA 6 614616 for gene: GUCY2C
Publications for gene GUCY2C were changed from to 22436048
DDG2P v0.1 GTPBP3 Rebecca Foulger gene: GTPBP3 was added
gene: GTPBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP3 were set to 25434004
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
DDG2P v0.1 GRM6 Rebecca Foulger gene: GRM6 was added
gene: GRM6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM6 were set to 15781871; 16249515; 17405131
Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270
DDG2P v0.1 GRM1 Rebecca Foulger gene: GRM1 was added
gene: GRM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM1 were set to 22901947
Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA 614831
DDG2P v0.1 GRIN2B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 for gene: GRIN2B
Publications for gene GRIN2B were changed from 23160955 to 20890276; 23160955; 23033978
DDG2P v0.1 GRIK2 Rebecca Foulger gene: GRIK2 was added
gene: GRIK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIK2 were set to 17847003
Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092
DDG2P v0.1 GRIA3 Rebecca Foulger gene: GRIA3 was added
gene: GRIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GRIA3 were set to 17989220
Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 300699
DDG2P v0.1 GPAA1 Rebecca Foulger gene: GPAA1 was added
gene: GPAA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095
Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
DDG2P v0.1 GON4L Rebecca Foulger gene: GON4L was added
gene: GON4L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 21937992
Phenotypes for gene: GON4L were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 GNS Rebecca Foulger gene: GNS was added
gene: GNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 6450420; 17998446; 19650410; 3100754; 12624138
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D 252940
DDG2P v0.1 GNB5 Rebecca Foulger gene: GNB5 was added
gene: GNB5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599
Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability
DDG2P v0.1 GNB3 Rebecca Foulger gene: GNB3 was added
gene: GNB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB3 were set to 27063057
Phenotypes for gene: GNB3 were set to GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.
DDG2P v0.1 GNAS Rebecca Foulger Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 for gene: GNAS
Publications for gene GNAS were changed from 11029463; 15592469; 18182455 to 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353
DDG2P v0.1 GNAS Rebecca Foulger Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 for gene: GNAS
DDG2P v0.1 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAS were set to 11029463; 15592469; 18182455
Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233
DDG2P v0.1 GNAI3 Rebecca Foulger gene: GNAI3 was added
gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI3 were set to 11102934
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483
Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments
DDG2P v0.1 GNA14 Rebecca Foulger gene: GNA14 was added
gene: GNA14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNA14 were set to 27476652
Phenotypes for gene: GNA14 were set to Congenital vascular tumours
Mode of pathogenicity for gene: GNA14 was set to Other - please provide details in the comments
DDG2P v0.1 GMPPB Rebecca Foulger gene: GMPPB was added
gene: GMPPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to 23768512
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350
Mode of pathogenicity for gene: GMPPB was set to Other - please provide details in the comments
DDG2P v0.1 GMPPA Rebecca Foulger gene: GMPPA was added
gene: GMPPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193
Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
DDG2P v0.1 GMNN Rebecca Foulger gene: GMNN was added
gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments
DDG2P v0.1 GLE1 Rebecca Foulger gene: GLE1 was added
gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLE1 were set to 18204449
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890
Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments
DDG2P v0.1 GLDN Rebecca Foulger gene: GLDN was added
gene: GLDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDN were set to 27616481
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
DDG2P v0.1 GLB1 Rebecca Foulger gene: GLB1 was added
gene: GLB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 1928092; 11511921; 7586649; 10841810
Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B 253010
DDG2P v0.1 GJC2 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA, 44 613206 for gene: GJC2
Publications for gene GJC2 were changed from 20537300 to 19056803
DDG2P v0.1 GJC2 Rebecca Foulger gene: GJC2 was added
gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 20537300
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480
Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments
DDG2P v0.1 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB3 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200
DDG2P v0.1 GJB2 Rebecca Foulger Added phenotypes BART-PUMPHREY SYNDROME 149200 for gene: GJB2
Publications for gene GJB2 were changed from 12372058; 10633135; 17993581; 2956987 to 15952212; 15482471
DDG2P v0.1 GJB2 Rebecca Foulger Added phenotypes PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350 for gene: GJB2
Publications for gene GJB2 were changed from 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464 to 12372058; 10633135; 17993581; 2956987
DDG2P v0.1 GJA8 Rebecca Foulger Added phenotypes CATARACT-MICROCORNEA SYNDROME 116150 for gene: GJA8
DDG2P v0.1 GJA8 Rebecca Foulger gene: GJA8 was added
gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200
Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments
DDG2P v0.1 GJA3 Rebecca Foulger gene: GJA3 was added
gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885
Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments
DDG2P v0.1 GJA1 Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME 241550 for gene: GJA1
Publications for gene GJA1 were changed from 14981729 to 11470490
DDG2P v0.1 GHR Rebecca Foulger gene: GHR was added
gene: GHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GHR were set to 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570
Phenotypes for gene: GHR were set to PITUITARY DWARFISM II 262500
DDG2P v0.1 GFER Rebecca Foulger gene: GFER was added
gene: GFER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522
Phenotypes for gene: GFER were set to MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076
DDG2P v0.1 GDI1 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 48 300104 for gene: GDI1
DDG2P v0.1 GDI1 Rebecca Foulger gene: GDI1 was added
gene: GDI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41 300104
DDG2P v0.1 GDF1 Rebecca Foulger Added phenotypes CONOTRUNCAL HEART MALFORMATIONS 217095 for gene: GDF1
DDG2P v0.1 GDF1 Rebecca Foulger Added phenotypes TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 for gene: GDF1
DDG2P v0.1 GCDH Rebecca Foulger gene: GCDH was added
gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670
Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments
DDG2P v0.1 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332917
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
DDG2P v0.1 GATM Rebecca Foulger gene: GATM was added
gene: GATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to 10762163
Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
DDG2P v0.1 GATA6 Rebecca Foulger Added phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 for gene: GATA6
Publications for gene GATA6 were changed from 20581743 to 22158542; 8071961
DDG2P v0.1 GATA6 Rebecca Foulger gene: GATA6 was added
gene: GATA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 20581743
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5 614474
DDG2P v0.1 GAS8 Rebecca Foulger gene: GAS8 was added
gene: GAS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS8 were set to 26387594
Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 GALNS Rebecca Foulger gene: GALNS was added
gene: GALNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A 253000
DDG2P v0.1 FYCO1 Rebecca Foulger gene: FYCO1 was added
gene: FYCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FYCO1 were set to 21636066; 11519376
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019
DDG2P v0.1 FTSJ1 Rebecca Foulger gene: FTSJ1 was added
gene: FTSJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FTSJ1 were set to 10398246; 8288232; 15162322
Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 309549
DDG2P v0.1 FTO Rebecca Foulger gene: FTO was added
gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to 19559399
Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938
Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments
DDG2P v0.1 FTL Rebecca Foulger gene: FTL was added
gene: FTL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
DDG2P v0.1 FRY Rebecca Foulger gene: FRY was added
gene: FRY was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to 21937992
Phenotypes for gene: FRY were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 FOXP1 Rebecca Foulger gene: FOXP1 was added
gene: FOXP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP1 were set to 20950788
Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670
DDG2P v0.1 FOXL2 Rebecca Foulger gene: FOXL2 was added
gene: FOXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXL2 were set to 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855
Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100
DDG2P v0.1 FOXG1 Rebecca Foulger gene: FOXG1 was added
gene: FOXG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXG1 were set to 19578037; 21441262; 19564653; 18571142
Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME 613454
DDG2P v0.1 FOXF1 Rebecca Foulger gene: FOXF1 was added
gene: FOXF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380
DDG2P v0.1 FOXE3 Rebecca Foulger gene: FOXE3 was added
gene: FOXE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FOXE3 were set to 11159941
Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA 610256
DDG2P v0.1 FOXE1 Rebecca Foulger gene: FOXE1 was added
gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850
Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments
DDG2P v0.1 FOXC2 Rebecca Foulger Added phenotypes HEREDITARY LYMPHEDEMA II 241432 for gene: FOXC2
DDG2P v0.1 FMR1 Rebecca Foulger Added phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360 for gene: FMR1
DDG2P v0.1 FLNB Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 for gene: FLNB
Publications for gene FLNB were changed from 18257094; 14991055; 18386804 to 14991055; 16801345
DDG2P v0.1 FLNB Rebecca Foulger gene: FLNB was added
gene: FLNB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLNB were set to 18257094; 14991055; 18386804
Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460
DDG2P v0.1 FLG Rebecca Foulger gene: FLG was added
gene: FLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG were set to 16444271; 17291859
Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS 146700
DDG2P v0.1 FKTN Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800 for gene: FKTN
Publications for gene FKTN were changed from 17036286 to 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207
DDG2P v0.1 FKTN Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1X 611615 for gene: FKTN
Publications for gene FKTN were changed from 19342235; 17044012 to 17036286
DDG2P v0.1 FKTN Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588 for gene: FKTN
Publications for gene FKTN were changed from to 19342235; 17044012
DDG2P v0.1 FKTN Rebecca Foulger gene: FKTN was added
gene: FKTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152
DDG2P v0.1 FKRP Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 for gene: FKRP
Publications for gene FKRP were changed from 15121789 to 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680
DDG2P v0.1 FKRP Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 for gene: FKRP
Publications for gene FKRP were changed from 11741828; 14523375; 12707439; 14647208 to 15121789
DDG2P v0.1 FKRP Rebecca Foulger gene: FKRP was added
gene: FKRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 11741828; 14523375; 12707439; 14647208
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155
DDG2P v0.1 FKBP14 Rebecca Foulger gene: FKBP14 was added
gene: FKBP14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
DDG2P v0.1 FIG4 Rebecca Foulger Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 for gene: FIG4
Publications for gene FIG4 were changed from 17572665 to 2319578; 7496176; 23623387
DDG2P v0.1 FIG4 Rebecca Foulger gene: FIG4 was added
gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665
Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228
DDG2P v0.1 FHL1 Rebecca Foulger gene: FHL1 was added
gene: FHL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FHL1 were set to 19716112; 18179888; 19687455
Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696
DDG2P v0.1 FH Rebecca Foulger gene: FH was added
gene: FH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY 606812
DDG2P v0.1 FGFR3 Rebecca Foulger Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3
Publications for gene FGFR3 were changed from 7773297 to 17033969
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 for gene: FGFR2
Publications for gene FGFR2 were changed from 7874170 to 19610084; 8696350
DDG2P v0.1 FGFR1 Rebecca Foulger Added phenotypes Hartsfield syndrome for gene: FGFR1
Publications for gene FGFR1 were changed from 26942290 to 23812909
DDG2P v0.1 FGD1 Rebecca Foulger gene: FGD1 was added
gene: FGD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGD1 were set to 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME 305400
DDG2P v0.1 FBXW4 Rebecca Foulger gene: FBXW4 was added
gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560
Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication
DDG2P v0.1 FBN2 Rebecca Foulger gene: FBN2 was added
gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527
Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050
Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments
DDG2P v0.1 FBN1 Rebecca Foulger Added phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 for gene: FBN1
DDG2P v0.1 FBN1 Rebecca Foulger Added phenotypes MARFAN SYNDROME 154700 for gene: FBN1
DDG2P v0.1 FBN1 Rebecca Foulger gene: FBN1 was added
gene: FBN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN1 were set to 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409
Phenotypes for gene: FBN1 were set to MARFAN SYNDROME 154700
DDG2P v0.1 FBLN1 Rebecca Foulger gene: FBLN1 was added
gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180
Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments
DDG2P v0.1 FAT4 Rebecca Foulger gene: FAT4 was added
gene: FAT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT4 were set to 24056717
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
DDG2P v0.1 FASN Rebecca Foulger gene: FASN was added
gene: FASN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FASN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASN were set to 21937992
Phenotypes for gene: FASN were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: FASN was set to Other - please provide details in the comments
DDG2P v0.1 FAR1 Rebecca Foulger gene: FAR1 was added
gene: FAR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
DDG2P v0.1 FAM58A Rebecca Foulger gene: FAM58A was added
gene: FAM58A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM58A were set to 18297069; 8818947
Phenotypes for gene: FAM58A were set to STAR SYNDROME 300707
DDG2P v0.1 EXT1 Rebecca Foulger gene: EXT1 was added
gene: EXT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXT1 were set to 8981950; 9326317; 15253765; 7550340
Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700
DDG2P v0.1 EXOSC3 Rebecca Foulger gene: EXOSC3 was added
gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments
DDG2P v0.1 ETFDH Rebecca Foulger gene: ETFDH was added
gene: ETFDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C 231680
DDG2P v0.1 ETFB Rebecca Foulger gene: ETFB was added
gene: ETFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B 231680
DDG2P v0.1 ETFA Rebecca Foulger gene: ETFA was added
gene: ETFA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 7912128; 17412732; 12815589; 19249206; 1430199; 1882842
Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A 231680
DDG2P v0.1 ERMARD Rebecca Foulger gene: ERMARD was added
gene: ERMARD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ERMARD were set to 24056535
Phenotypes for gene: ERMARD were set to PERIVENTRICULAR HETEROTOPIA
DDG2P v0.1 ERLIN2 Rebecca Foulger gene: ERLIN2 was added
gene: ERLIN2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ERLIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 21937992
Phenotypes for gene: ERLIN2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ERLIN2 was set to Other - please provide details in the comments
DDG2P v0.1 ERF Rebecca Foulger Added phenotypes Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia for gene: ERF
Publications for gene ERF were changed from 23354439 to 27738187
DDG2P v0.1 ERCC6L2 Rebecca Foulger gene: ERCC6L2 was added
gene: ERCC6L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776
Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 615715
DDG2P v0.1 ERCC4 Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: ERCC4
DDG2P v0.1 EPHB4 Rebecca Foulger gene: EPHB4 was added
gene: EPHB4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPHB4 were set to 28687708; 29444212
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2
DDG2P v0.1 EPG5 Rebecca Foulger gene: EPG5 was added
gene: EPG5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 3344762
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840
DDG2P v0.1 ENTPD1 Rebecca Foulger gene: ENTPD1 was added
gene: ENTPD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to 21937992
Phenotypes for gene: ENTPD1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ENTPD1 was set to Other - please provide details in the comments
DDG2P v0.1 ENPP1 Rebecca Foulger Added phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 for gene: ENPP1
Publications for gene ENPP1 were changed from 20137773; 20137772 to 19206175; 15940697; 22209248; 11159191; 12881724; 15605415
DDG2P v0.1 EMC1 Rebecca Foulger Added phenotypes Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. for gene: EMC1
DDG2P v0.1 EMC1 Rebecca Foulger gene: EMC1 was added
gene: EMC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
DDG2P v0.1 ELP2 Rebecca Foulger gene: ELP2 was added
gene: ELP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP2 were set to 21937992
Phenotypes for gene: ELP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ELP2 was set to Other - please provide details in the comments
DDG2P v0.1 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
DDG2P v0.1 ELN Rebecca Foulger Added phenotypes SUPRAVALVAR AORTIC STENOSIS 185500 for gene: ELN
Publications for gene ELN were changed from to 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671
DDG2P v0.1 ELMO2 Rebecca Foulger gene: ELMO2 was added
gene: ELMO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMO2 were set to 27476657
Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation
DDG2P v0.1 ELAC2 Rebecca Foulger gene: ELAC2 was added
gene: ELAC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to 23849775; 27769300
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010
DDG2P v0.1 EEF1B2 Rebecca Foulger gene: EEF1B2 was added
gene: EEF1B2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 21937992
Phenotypes for gene: EEF1B2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 EDN1 Rebecca Foulger Added phenotypes AURICULOCONDYLAR SYNDROME 602483 for gene: EDN1
DDG2P v0.1 EDN1 Rebecca Foulger gene: EDN1 was added
gene: EDN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN1 were set to 24268655
Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME 602483
DDG2P v0.1 EDAR Rebecca Foulger gene: EDAR was added
gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDAR was set to
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
DDG2P v0.1 ECEL1 Rebecca Foulger gene: ECEL1 was added
gene: ECEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECEL1 were set to 23261301
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D 615065
DDG2P v0.1 DYRK1A Rebecca Foulger gene: DYRK1A was added
gene: DYRK1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104
DDG2P v0.1 DYNC1H1 Rebecca Foulger gene: DYNC1H1 was added
gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 22459677
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600
Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments
DDG2P v0.1 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSTYK were set to 23862974
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
DDG2P v0.1 DRC1 Rebecca Foulger gene: DRC1 was added
gene: DRC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRC1 were set to 23354437
Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA 244400
DDG2P v0.1 DPAGT1 Rebecca Foulger gene: DPAGT1 was added
gene: DPAGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 22742743
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750
DDG2P v0.1 DOCK7 Rebecca Foulger gene: DOCK7 was added
gene: DOCK7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK7 were set to 24814191
Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859
DDG2P v0.1 DNAJB13 Rebecca Foulger gene: DNAJB13 was added
gene: DNAJB13 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to 27486783
Phenotypes for gene: DNAJB13 were set to Primary Ciliary Dyskinesia and Male Infertility
DDG2P v0.1 DNAH5 Rebecca Foulger gene: DNAH5 was added
gene: DNAH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH5 were set to 27637300
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3
DDG2P v0.1 DNAAF5 Rebecca Foulger gene: DNAAF5 was added
gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF5 were set to 23040496
Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874
Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments
DDG2P v0.1 DNAAF4 Rebecca Foulger gene: DNAAF4 was added
gene: DNAAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF4 were set to 23872636
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
DDG2P v0.1 DNAAF3 Rebecca Foulger gene: DNAAF3 was added
gene: DNAAF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF3 were set to 10745040; 22387996
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA 606763
DDG2P v0.1 DNA2 Rebecca Foulger gene: DNA2 was added
gene: DNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050
Phenotypes for gene: DNA2 were set to PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807
DDG2P v0.1 DMP1 Rebecca Foulger gene: DMP1 was added
gene: DMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 17033625; 17033621
Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR 241520
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 for gene: DMD
Publications for gene DMD were changed from 8789442; 8361506; 9683584; 9170407 to 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 for gene: DMD
Publications for gene DMD were changed from 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 to 8789442; 8361506; 9683584; 9170407
DDG2P v0.1 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DMD were set to 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470
Phenotypes for gene: DMD were set to BECKER MUSCULAR DYSTROPHY 300376
DDG2P v0.1 DLG3 Rebecca Foulger gene: DLG3 was added
gene: DLG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 300189
DDG2P v0.1 DIP2B Rebecca Foulger gene: DIP2B was added
gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DIP2B were set to 17236128
Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630
Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments
DDG2P v0.1 DGAT1 Rebecca Foulger gene: DGAT1 was added
gene: DGAT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGAT1 were set to 23114594
Phenotypes for gene: DGAT1 were set to CONGENITAL DIARRHEAL DISORDERS
DDG2P v0.1 DEPDC5 Rebecca Foulger gene: DEPDC5 was added
gene: DEPDC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DEPDC5 were set to 9851433; 14510823; 23542701; 15329069; 10825362; 10577924
Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364
DDG2P v0.1 DEAF1 Rebecca Foulger gene: DEAF1 was added
gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DEAF1 were set to 24726472; 21076407
Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments
DDG2P v0.1 DDX11 Rebecca Foulger gene: DDX11 was added
gene: DDX11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX11 were set to 23033317; 20137776
Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME 613398
DDG2P v0.1 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23176823
Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033
DDG2P v0.1 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to 15786464; 23176821
Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030
DDG2P v0.1 DDC Rebecca Foulger gene: DDC was added
gene: DDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 20505134
Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
DDG2P v0.1 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCHS1 were set to 24056717
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
DDG2P v0.1 DARS2 Rebecca Foulger gene: DARS2 was added
gene: DARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 17384640
Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
DDG2P v0.1 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments
DDG2P v0.1 DAG1 Rebecca Foulger gene: DAG1 was added
gene: DAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 21388311
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
Mode of pathogenicity for gene: DAG1 was set to Other - please provide details in the comments
DDG2P v0.1 D2HGDH Rebecca Foulger gene: D2HGDH was added
gene: D2HGDH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 15609246
Phenotypes for gene: D2HGDH were set to D-2-HYDROXYGLUTARIC ACIDURIA 1 600721
DDG2P v0.1 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 23176821
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030
DDG2P v0.1 CYP24A1 Rebecca Foulger gene: CYP24A1 was added
gene: CYP24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 27394135
Phenotypes for gene: CYP24A1 were set to Hereditary 1,25-dihydroxyvitamin D-resistant rickets
DDG2P v0.1 CYP1B1 Rebecca Foulger gene: CYP1B1 was added
gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments
DDG2P v0.1 CYC1 Rebecca Foulger gene: CYC1 was added
gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYC1 were set to 23910460
Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453
Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments
DDG2P v0.1 CUL4B Rebecca Foulger gene: CUL4B was added
gene: CUL4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 17236139
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354
DDG2P v0.1 CTNND1 Rebecca Foulger gene: CTNND1 was added
gene: CTNND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 100000; 29348693; 28301459
Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome
DDG2P v0.1 CTNNB1 Rebecca Foulger gene: CTNNB1 was added
gene: CTNNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
DDG2P v0.1 CTDP1 Rebecca Foulger gene: CTDP1 was added
gene: CTDP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTDP1 were set to 14517542
Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
DDG2P v0.1 CSNK1G1 Rebecca Foulger gene: CSNK1G1 was added
gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSNK1G1 were set to 24463883
Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY
Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: CRYGD
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 608983 for gene: CRYGD
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 for gene: CRYGD
Publications for gene CRYGD were changed from 17564961; 12011157; 10915766; 10521291; 9927684 to 9927684
DDG2P v0.1 CRYGD Rebecca Foulger gene: CRYGD was added
gene: CRYGD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYGD were set to 17564961; 12011157; 10915766; 10521291; 9927684
Phenotypes for gene: CRYGD were set to CATARACT CRYSTALLINE ACULEIFORM 115700
DDG2P v0.1 CRYGC Rebecca Foulger Added phenotypes CATARACT COPPOCK-LIKE 604307 for gene: CRYGC
Publications for gene CRYGC were changed from to 12011157; 10521291; 10914683
DDG2P v0.1 CRYGC Rebecca Foulger gene: CRYGC was added
gene: CRYGC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT 604219
DDG2P v0.1 CRYBB3 Rebecca Foulger gene: CRYBB3 was added
gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRYBB3 were set to 15914629
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741
Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBB2 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 for gene: CRYBB2
Publications for gene CRYBB2 were changed from to 11424921; 8812489
DDG2P v0.1 CRYBB2 Rebecca Foulger gene: CRYBB2 was added
gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307
DDG2P v0.1 CRYBB1 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 for gene: CRYBB1
DDG2P v0.1 CRYBB1 Rebecca Foulger gene: CRYBB1 was added
gene: CRYBB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were set to 12360425; 17460281
Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544
DDG2P v0.1 CRYBA4 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 for gene: CRYBA4
Publications for gene CRYBA4 were changed from 16960806; 15452067 to 16960806
DDG2P v0.1 CRYBA4 Rebecca Foulger gene: CRYBA4 was added
gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYBA4 were set to 16960806; 15452067
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425
Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBA1 Rebecca Foulger gene: CRYBA1 was added
gene: CRYBA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYBA1 were set to 14598164
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881
DDG2P v0.1 CRYAB Rebecca Foulger Added phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 for gene: CRYAB
Publications for gene CRYAB were changed from 11577372 to 21337604
DDG2P v0.1 CRYAB Rebecca Foulger gene: CRYAB was added
gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYAB were set to 11577372
Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763
DDG2P v0.1 CRYAA Rebecca Foulger Added phenotypes CATARACT, NUCLEAR 123580 for gene: CRYAA
Publications for gene CRYAA were changed from 11006246 to 19182255
DDG2P v0.1 CRYAA Rebecca Foulger gene: CRYAA was added
gene: CRYAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYAA were set to 11006246
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580
DDG2P v0.1 CRBN Rebecca Foulger gene: CRBN was added
gene: CRBN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRBN were set to 18414909
Phenotypes for gene: CRBN were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417
DDG2P v0.1 CRADD Rebecca Foulger Added phenotypes Megalencephaly with Variant Lissencephaly for gene: CRADD
Publications for gene CRADD were changed from 22279524 to 27773430
DDG2P v0.1 CRADD Rebecca Foulger gene: CRADD was added
gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRADD were set to 22279524
Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499
Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments
DDG2P v0.1 CPS1 Rebecca Foulger gene: CPS1 was added
gene: CPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 8486760; 11474210; 9711878; 17310273; 19793055
Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
DDG2P v0.1 COX7B Rebecca Foulger gene: COX7B was added
gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: COX7B were set to 23122588; 9747372
Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
DDG2P v0.1 COQ5 Rebecca Foulger gene: COQ5 was added
gene: COQ5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 21937992
Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: COQ5 was set to Other - please provide details in the comments
DDG2P v0.1 COQ4 Rebecca Foulger gene: COQ4 was added
gene: COQ4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 25658047
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
DDG2P v0.1 COMP Rebecca Foulger gene: COMP was added
gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170
Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments
DDG2P v0.1 COL6A3 Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 for gene: COL6A3
Publications for gene COL6A3 were changed from 26004199 to 11992252
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 for gene: COL2A1
Publications for gene COL2A1 were changed from 8723097; 15316962 to 21671384; 15930420
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 for gene: COL2A1
Publications for gene COL2A1 were changed from 14729840 to 16752401; 17721977; 15671297
DDG2P v0.1 COL25A1 Rebecca Foulger gene: COL25A1 was added
gene: COL25A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 25500261
Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219
DDG2P v0.1 CNKSR1 Rebecca Foulger gene: CNKSR1 was added
gene: CNKSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 21937992
Phenotypes for gene: CNKSR1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CLPB Rebecca Foulger gene: CLPB was added
gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 25597510
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
DDG2P v0.1 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803
Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments
DDG2P v0.1 CLN8 Rebecca Foulger Added phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 for gene: CLN8
Publications for gene CLN8 were changed from 16570191; 19431184 to 10508524
DDG2P v0.1 CLIC2 Rebecca Foulger gene: CLIC2 was added
gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLIC2 were set to 22814392
Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32
Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments
DDG2P v0.1 CLDN19 Rebecca Foulger gene: CLDN19 was added
gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971
Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments
DDG2P v0.1 CLCNKB Rebecca Foulger gene: CLCNKB was added
gene: CLCNKB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKB were set to 15044642; 18310267
Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B 613090
DDG2P v0.1 CLCNKA Rebecca Foulger gene: CLCNKA was added
gene: CLCNKA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKA were set to BARTTER SYNDROME TYPE 4B 613090
DDG2P v0.1 CKAP2L Rebecca Foulger gene: CKAP2L was added
gene: CKAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
DDG2P v0.1 CIT Rebecca Foulger gene: CIT was added
gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIT were set to 27453578
Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414
Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments
DDG2P v0.1 CHRNG Rebecca Foulger gene: CHRNG was added
gene: CHRNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 16826520
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
DDG2P v0.1 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP1A were set to 23023333
Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961
DDG2P v0.1 CHD7 Rebecca Foulger Added phenotypes CHARGE SYNDROME 214800 for gene: CHD7
Publications for gene CHD7 were changed from 18834967 to 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359
DDG2P v0.1 CHD4 Rebecca Foulger gene: CHD4 was added
gene: CHD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD4 were set to 27616479; 27479907
Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
DDG2P v0.1 CFC1 Rebecca Foulger gene: CFC1 was added
gene: CFC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372
DDG2P v0.1 CEP57 Rebecca Foulger gene: CEP57 was added
gene: CEP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 21552266; 12116237
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
DDG2P v0.1 CEP290 Rebecca Foulger gene: CEP290 was added
gene: CEP290 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 209900
DDG2P v0.1 CEP152 Rebecca Foulger gene: CEP152 was added
gene: CEP152 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4 604321
DDG2P v0.1 CEP135 Rebecca Foulger gene: CEP135 was added
gene: CEP135 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP135 were set to 22521416
Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
DDG2P v0.1 CENPJ Rebecca Foulger gene: CENPJ was added
gene: CENPJ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPJ were set to 15793586; 16900296; 20978018; 12843329
Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6 608393
DDG2P v0.1 CDKL5 Rebecca Foulger gene: CDKL5 was added
gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
DDG2P v0.1 CDK5RAP2 Rebecca Foulger gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
DDG2P v0.1 CDK13 Rebecca Foulger gene: CDK13 was added
gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK13 were set to 27479907
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments
DDG2P v0.1 CDK10 Rebecca Foulger gene: CDK10 was added
gene: CDK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 29130579; 28886341
Phenotypes for gene: CDK10 were set to Severe Growth Retardation, Spine Malformations, and Developmental Delays
DDG2P v0.1 CDH3 Rebecca Foulger Added phenotypes HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 for gene: CDH3
Publications for gene CDH3 were changed from 15805154 to 11544476; 12445216
DDG2P v0.1 CDH15 Rebecca Foulger gene: CDH15 was added
gene: CDH15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDH15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH15 were set to 19012874; 26506440
Phenotypes for gene: CDH15 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580
DDG2P v0.1 CDH1 Rebecca Foulger gene: CDH1 was added
gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH1 were set to 100000
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments
DDG2P v0.1 CCNO Rebecca Foulger gene: CCNO was added
gene: CCNO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNO were set to 24747639
Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 615872
DDG2P v0.1 CCNA2 Rebecca Foulger gene: CCNA2 was added
gene: CCNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNA2 were set to 21937992
Phenotypes for gene: CCNA2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CCDC65 Rebecca Foulger gene: CCDC65 was added
gene: CCDC65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCDC40 Rebecca Foulger gene: CCDC40 was added
gene: CCDC40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC40 were set to 21131974
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 613808
DDG2P v0.1 CCDC39 Rebecca Foulger gene: CCDC39 was added
gene: CCDC39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC39 were set to 21131972
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14 613807
DDG2P v0.1 CCDC151 Rebecca Foulger gene: CCDC151 was added
gene: CCDC151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC151 were set to 25192045
Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA 616037
DDG2P v0.1 CCDC114 Rebecca Foulger gene: CCDC114 was added
gene: CCDC114 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC114 were set to 23261303; 23261302
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCDC103 Rebecca Foulger gene: CCDC103 was added
gene: CCDC103 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC103 were set to 22581229
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CC2D1A Rebecca Foulger gene: CC2D1A was added
gene: CC2D1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D1A were set to 16033914
Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
DDG2P v0.1 CASP2 Rebecca Foulger gene: CASP2 was added
gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 21937992
Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CASK was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CASK were set to 21954287; 19165920
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749
DDG2P v0.1 CARS2 Rebecca Foulger gene: CARS2 was added
gene: CARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 25787132; 25361775
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression
DDG2P v0.1 CAPN10 Rebecca Foulger gene: CAPN10 was added
gene: CAPN10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAPN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN10 were set to 21937992
Phenotypes for gene: CAPN10 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMTA1 were set to 22693284
Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756
DDG2P v0.1 CACNA1G Rebecca Foulger gene: CACNA1G was added
gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1G were set to 21937992
Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CACNA1D Rebecca Foulger Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474 for gene: CACNA1D
Publications for gene CACNA1D were changed from 21131953 to 23913001
DDG2P v0.1 CA8 Rebecca Foulger gene: CA8 was added
gene: CA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA8 were set to 19461874; 21937992
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
DDG2P v0.1 CA5A Rebecca Foulger gene: CA5A was added
gene: CA5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203
Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
DDG2P v0.1 C21orf59 Rebecca Foulger gene: C21orf59 was added
gene: C21orf59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 C1QBP Rebecca Foulger gene: C1QBP was added
gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments
DDG2P v0.1 BUB1B Rebecca Foulger gene: BUB1B was added
gene: BUB1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 9916837; 21190457; 16411201; 11169558; 15475955
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
DDG2P v0.1 BSND Rebecca Foulger gene: BSND was added
gene: BSND was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 19646679; 12574213; 11687798
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A 602522
DDG2P v0.1 BRWD3 Rebecca Foulger gene: BRWD3 was added
gene: BRWD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BRWD3 were set to 17668385
Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 300659
DDG2P v0.1 BRAF Rebecca Foulger Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 for gene: BRAF
Publications for gene BRAF were changed from 19206169 to 18042262; 16474404; 16372351
DDG2P v0.1 BRAF Rebecca Foulger Added phenotypes LEOPARD SYNDROME TYPE 3 613707 for gene: BRAF
DDG2P v0.1 BMP2 Rebecca Foulger gene: BMP2 was added
gene: BMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 100000
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
DDG2P v0.1 BIN1 Rebecca Foulger gene: BIN1 was added
gene: BIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIN1 were set to 20142620; 17676042
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 255200
DDG2P v0.1 BICD2 Rebecca Foulger gene: BICD2 was added
gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 23664120
Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments
DDG2P v0.1 BFSP2 Rebecca Foulger gene: BFSP2 was added
gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BFSP2 were set to 10634598; 10729115
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments
DDG2P v0.1 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
DDG2P v0.1 BBS9 Rebecca Foulger gene: BBS9 was added
gene: BBS9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9 209900
DDG2P v0.1 BBS7 Rebecca Foulger gene: BBS7 was added
gene: BBS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7 209900
DDG2P v0.1 BBS5 Rebecca Foulger gene: BBS5 was added
gene: BBS5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5 209900
DDG2P v0.1 BBS4 Rebecca Foulger gene: BBS4 was added
gene: BBS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4 209900
DDG2P v0.1 BBS2 Rebecca Foulger gene: BBS2 was added
gene: BBS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2 209900
DDG2P v0.1 BBS12 Rebecca Foulger gene: BBS12 was added
gene: BBS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 209900
DDG2P v0.1 BBS10 Rebecca Foulger gene: BBS10 was added
gene: BBS10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 209900
DDG2P v0.1 BBS1 Rebecca Foulger gene: BBS1 was added
gene: BBS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 209900
DDG2P v0.1 B3GALNT2 Rebecca Foulger gene: B3GALNT2 was added
gene: B3GALNT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181
DDG2P v0.1 ATRX Rebecca Foulger Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 for gene: ATRX
Publications for gene ATRX were changed from 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 to 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714
DDG2P v0.1 ATRX Rebecca Foulger gene: ATRX was added
gene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095
Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
DDG2P v0.1 ATP8A2 Rebecca Foulger gene: ATP8A2 was added
gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528
Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268
Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP7A Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A
Publications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371
DDG2P v0.1 ATP6V1B1 Rebecca Foulger gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796
Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
DDG2P v0.1 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423
Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235
Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments
DDG2P v0.1 ATP13A2 Rebecca Foulger gene: ATP13A2 was added
gene: ATP13A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 606693
DDG2P v0.1 ATAD3A Rebecca Foulger Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A
DDG2P v0.1 ATAD3A Rebecca Foulger gene: ATAD3A was added
gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
DDG2P v0.1 ASPM Rebecca Foulger gene: ASPM was added
gene: ASPM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPM were set to 12355089
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
DDG2P v0.1 ASL Rebecca Foulger gene: ASL was added
gene: ASL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12408190; 12384776
Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY 207900
DDG2P v0.1 ASCL1 Rebecca Foulger gene: ASCL1 was added
gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCL1 were set to 21937992
Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC3 Rebecca Foulger gene: ASCC3 was added
gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992
Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC1 Rebecca Foulger gene: ASCC1 was added
gene: ASCC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to 26924529
Phenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
DDG2P v0.1 ASAH1 Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1
Publications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880
DDG2P v0.1 ASAH1 Rebecca Foulger gene: ASAH1 was added
gene: ASAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 10610716; 16951918; 11241842; 8955159
Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS 228000
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 300215 for gene: ARX
Publications for gene ARX were changed from 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 to 14722918; 11891829; 12379852
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX
Publications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes PARTINGTON SYNDROME 309510 for gene: ARX
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX
Publications for gene ARX were changed from 21204226; 11971879 to 1605226
DDG2P v0.1 ARX Rebecca Foulger gene: ARX was added
gene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARX were set to 21204226; 11971879
Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419
DDG2P v0.1 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARSE were set to 9409863; 7720070; 12567415
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
DDG2P v0.1 ARSB Rebecca Foulger gene: ARSB was added
gene: ARSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 1718978; 1301949; 17643332; 8723688; 1550123; 8651289
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 253200
DDG2P v0.1 ARSA Rebecca Foulger gene: ARSA was added
gene: ARSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462
Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY 250100
DDG2P v0.1 ARMC9 Rebecca Foulger gene: ARMC9 was added
gene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
DDG2P v0.1 ARMC4 Rebecca Foulger gene: ARMC4 was added
gene: ARMC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC4 were set to 23849778
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 615451
DDG2P v0.1 ARL6 Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 for gene: ARL6
Publications for gene ARL6 were changed from 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 to 19956407
DDG2P v0.1 ARL6 Rebecca Foulger gene: ARL6 was added
gene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660
Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900
DDG2P v0.1 ARL14EP Rebecca Foulger gene: ARL14EP was added
gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL14EP were set to 21937992
Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments
DDG2P v0.1 ARID2 Rebecca Foulger gene: ARID2 was added
gene: ARID2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARID2 were set to 28124119
Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder
DDG2P v0.1 ARID1B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562 for gene: ARID1B
Publications for gene ARID1B were changed from to 22426309; 22426308; 22405089
DDG2P v0.1 ARID1B Rebecca Foulger gene: ARID1B was added
gene: ARID1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME
DDG2P v0.1 ARID1A Rebecca Foulger gene: ARID1A was added
gene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900
DDG2P v0.1 ARHGEF9 Rebecca Foulger gene: ARHGEF9 was added
gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARHGEF9 were set to 21633362
Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
DDG2P v0.1 ARHGEF6 Rebecca Foulger gene: ARHGEF6 was added
gene: ARHGEF6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF6 were set to MENTAL RETARDATION X-LINKED TYPE 46 300436
DDG2P v0.1 ARHGAP31 Rebecca Foulger gene: ARHGAP31 was added
gene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP31 were set to 16451141; 474617
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300
DDG2P v0.1 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 10502833; 2365823; 1463019; 7649538; 1598908
Phenotypes for gene: ARG1 were set to ARGININEMIA 207800
DDG2P v0.1 ARFGEF2 Rebecca Foulger gene: ARFGEF2 was added
gene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARFGEF2 were set to 14647276
Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
DDG2P v0.1 ARCN1 Rebecca Foulger gene: ARCN1 was added
gene: ARCN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism
DDG2P v0.1 AR Rebecca Foulger Added phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 for gene: AR
DDG2P v0.1 AR Rebecca Foulger gene: AR was added
gene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200
DDG2P v0.1 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187
Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630
DDG2P v0.1 ANO5 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307 for gene: ANO5
DDG2P v0.1 ANO5 Rebecca Foulger gene: ANO5 was added
gene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
DDG2P v0.1 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 23911318
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
DDG2P v0.1 ALX4 Rebecca Foulger Added phenotypes PARIETAL FORAMINA 2 221704 for gene: ALX4
DDG2P v0.1 ALDOB Rebecca Foulger gene: ALDOB was added
gene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOB were set to 3383242
Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600
DDG2P v0.1 ALDH3A2 Rebecca Foulger gene: ALDH3A2 was added
gene: ALDH3A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 9250352; 9254849; 8528251; 10792573; 10577908
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME 270200
DDG2P v0.1 ALDH18A1 Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 for gene: ALDH18A1
DDG2P v0.1 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
DDG2P v0.1 AK2 Rebecca Foulger gene: AK2 was added
gene: AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS 267500
DDG2P v0.1 AGXT Rebecca Foulger gene: AGXT was added
gene: AGXT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 8101040
Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 259900
DDG2P v0.1 AGTR2 Rebecca Foulger gene: AGTR2 was added
gene: AGTR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AGTR2 were set to X-LINKED MENTAL RETARDATION 88 290909
DDG2P v0.1 AGA Rebecca Foulger gene: AGA was added
gene: AGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to 6883788; 1765378; 8776587
Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA 208400
DDG2P v0.1 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20208537
Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246
DDG2P v0.1 AFF2 Rebecca Foulger gene: AFF2 was added
gene: AFF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AFF2 were set to 21739600; 8334699
Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
DDG2P v0.1 ADRA2B Rebecca Foulger gene: ADRA2B was added
gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 21937992
Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments
DDG2P v0.1 ADNP Rebecca Foulger gene: ADNP was added
gene: ADNP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADNP were set to 24531329
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
DDG2P v0.1 ADK Rebecca Foulger gene: ADK was added
gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADK were set to 21937992
Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
Publications for gene ADAR were changed from 12916015; 16935814; 17478391; 16817193 to 23001123
DDG2P v0.1 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193
Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
DDG2P v0.1 ACTG1 Rebecca Foulger gene: ACTG1 was added
gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTB were set to 22366783
Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME
DDG2P v0.1 ACSL4 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 for gene: ACSL4
Publications for gene ACSL4 were changed from to 12525535; 11889465
DDG2P v0.1 ACSL4 Rebecca Foulger gene: ACSL4 was added
gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
DDG2P v0.1 ACO2 Rebecca Foulger gene: ACO2 was added
gene: ACO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were set to 22405087
Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559
DDG2P v0.1 ACBD6 Rebecca Foulger gene: ACBD6 was added
gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 21937992
Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations
Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments
DDG2P v0.1 ABHD5 Rebecca Foulger gene: ABHD5 was added
gene: ABHD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 11590543
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME 275630
DDG2P v0.1 ABCC6 Rebecca Foulger gene: ABCC6 was added
gene: ABCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC6 were set to 22209248
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
DDG2P v0.1 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 25817015
Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
DDG2P v0.0 Ellen McDonagh Added Panel DDG2P
Set panel types to: GMS Rare Disease Virtual